Variant report

Variant	rs74124933
Chromosome Location	chr1:161369437-161369438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:531)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr1:161368589-161370143	A549	lung:	n/a	n/a
2	GATA2	chr1:161368824-161369985	SH-SY5Y	brain:	n/a	n/a
3	CTCF	chr1:161369320-161369470	HA-sp	spinal cord:	n/a	n/a
4	USF1	chr1:161369305-161369737	A549	lung:	n/a	n/a
5	ELF1	chr1:161368951-161369811	A549	lung:	n/a	chr1:161369169-161369180 chr1:161369316-161369325
6	HDAC2	chr1:161369399-161369965	MCF-7	breast:	n/a	chr1:161369456-161369470 chr1:161369457-161369471 chr1:161369461-161369475
7	SP4	chr1:161369191-161369679	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr1:161368707-161370132	HL-60	blood:	n/a	n/a
9	PAX5	chr1:161368986-161369725	GM12891	blood:	n/a	n/a
10	IRF4	chr1:161368900-161369805	GM12878	blood:	n/a	n/a
11	ATF3	chr1:161368795-161369869	K562	blood:	n/a	n/a
12	POLR2A	chr1:161368644-161370176	H1-hESC	embryonic stem cell:	n/a	n/a
13	IRF1	chr1:161368676-161370403	K562	blood:	n/a	chr1:161368760-161368774 chr1:161368756-161368776 chr1:161368764-161368774
14	MBD4	chr1:161368808-161369638	HepG2	liver:	n/a	n/a
15	CTCF	chr1:161369416-161369481	Kidney_OC	kidney:	n/a	n/a
16	HEY1	chr1:161368711-161369976	K562	blood:	n/a	chr1:161369306-161369321
17	CTCF	chr1:161369137-161369457	H1-hESC	embryonic stem cell:	n/a	chr1:161369306-161369315
18	CTCF	chr1:161369111-161369674	IMR90	lung:	n/a	chr1:161369306-161369315
19	POLR2A	chr1:161368767-161370017	Raji	blood:	n/a	n/a
20	MAX	chr1:161368729-161370019	ECC-1	luminal epithelium:	n/a	n/a
21	ZNF143	chr1:161368892-161369894	Hela-S3	cervix:	n/a	n/a
22	ELF1	chr1:161368942-161369944	A549	lung:	n/a	chr1:161369169-161369180 chr1:161369802-161369814 chr1:161369316-161369325
23	RCOR1	chr1:161368880-161370357	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr1:161368906-161370568	GM12878	blood:	n/a	n/a
25	YY1	chr1:161368776-161370025	ECC-1	luminal epithelium:	n/a	chr1:161369313-161369322 chr1:161369305-161369319 chr1:161369314-161369328
26	TAF1	chr1:161368846-161370079	A549	lung:	n/a	n/a
27	SPI1	chr1:161369021-161369675	GM12891	blood:	n/a	n/a
28	JUN	chr1:161368850-161370555	K562	blood:	n/a	n/a
29	RXRA	chr1:161369310-161369722	HepG2	liver:	n/a	n/a
30	EP300	chr1:161368928-161369797	GM12878	blood:	n/a	chr1:161369314-161369323 chr1:161369316-161369325 chr1:161369777-161369784
31	BCL11A	chr1:161369377-161369702	GM12878	blood:	n/a	n/a
32	CTCF	chr1:161369083-161369756	GM12878	blood:	n/a	chr1:161369306-161369315
33	POLR2A	chr1:161368773-161370274	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:161368837-161370073	NB4	blood:	n/a	n/a
35	SIN3AK20	chr1:161369079-161369744	A549	lung:	n/a	n/a
36	SP1	chr1:161368804-161370088	A549	lung:	n/a	n/a
37	EP300	chr1:161368879-161369798	HepG2	liver:	n/a	chr1:161369314-161369323 chr1:161369316-161369325 chr1:161369777-161369784
38	PML	chr1:161368937-161369739	GM12878	blood:	n/a	n/a
39	JUND	chr1:161368822-161370526	K562	blood:	n/a	n/a
40	REST	chr1:161368842-161369989	A549	lung:	n/a	n/a
41	HMGN3	chr1:161368944-161370061	K562	blood:	n/a	n/a
42	REST	chr1:161368897-161369712	SK-N-SH	brain:	n/a	n/a
43	UBTF	chr1:161368676-161370132	K562	blood:	n/a	n/a
44	MXI1	chr1:161368887-161369804	GM12878	blood:	n/a	n/a
45	ZNF143	chr1:161368979-161369761	K562	blood:	n/a	n/a
46	CTCF	chr1:161369300-161369450	BE2_C	brain:	n/a	chr1:161369306-161369315
47	GABPA	chr1:161368859-161369440	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:161369300-161369450	NB4	blood:	n/a	chr1:161369306-161369315
49	EP300	chr1:161369288-161369766	GM12878	blood:	n/a	chr1:161369314-161369323 chr1:161369316-161369325
50	FOXA1	chr1:161369326-161369705	T-47D	breast:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161134675..161137547-chr1:161367639..161370796,3	MCF-7	breast:
2	chr1:161170920..161172634-chr1:161367719..161371418,3	K562	blood:
3	chr1:161194302..161197797-chr1:161367692..161371264,4	K562	blood:
4	chr1:161195417..161197356-chr1:161369111..161371418,2	MCF-7	breast:
5	chr1:161352260..161354753-chr1:161367912..161370247,2	K562	blood:
6	chr1:161227018..161229879-chr1:161368807..161370769,2	K562	blood:
7	chr1:161369099..161369605-chr9:86594609..86595136,2	Hela-S3	cervix:
8	chr1:161169854..161174151-chr1:161367669..161371061,6	K562	blood:
9	chr1:161179180..161181055-chr1:161368974..161370710,2	K562	blood:
10	chr1:109234294..109235161-chr1:161369069..161369959,2	Hela-S3	cervix:
11	chr1:161368909..161369799-chr11:122567335..122567873,2	NB4	blood:
12	chr1:161368901..161369511-chr12:57913791..57914555,2	Hela-S3	cervix:
13	chr1:161369068..161369626-chr10:104952486..104953020,2	Hela-S3	cervix:
14	chr1:161014588..161016385-chr1:161367824..161369724,2	K562	blood:
15	chr1:161284112..161286514-chr1:161369211..161371355,2	K562	blood:
16	chr1:161167864..161169396-chr1:161369052..161371683,2	MCF-7	breast:
17	chr1:161369089..161369854-chr2:88927297..88927921,2	Hela-S3	cervix:
18	chr1:161164912..161166810-chr1:161369417..161371024,2	K562	blood:
19	chr1:161369209..161370167-chr5:154134118..154134820,2	Hela-S3	cervix:
20	chr1:161368637..161369445-chr7:32534785..32535506,2	Hela-S3	cervix:
21	chr1:161369214..161370167-chr19:13951479..13952431,2	Hela-S3	cervix:
22	chr1:161369071..161369621-chr17:41465703..41466583,2	Hela-S3	cervix:
23	chr1:161178084..161179707-chr1:161368204..161370692,2	K562	blood:
24	chr1:110949781..110950700-chr1:161368976..161369850,2	Hela-S3	cervix:
25	chr1:161360479..161362170-chr1:161367532..161370441,2	MCF-7	breast:
26	chr1:161367923..161370104-chr21:41756432..41758062,2	MCF-7	breast:
27	chr1:161133577..161136315-chr1:161367610..161370978,3	MCF-7	breast:
28	chr1:161367820..161369576-chr1:173836178..173838599,2	MCF-7	breast:
29	chr1:161368220..161370476-chr1:161391419..161393539,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-481P	TF binding region
ENSG00000105778	Chromatin interaction
ENSG00000248485	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000106355	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000234028	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000134248	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000224699	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000134186	Chromatin interaction
ENSG00000143252	Chromatin interaction

Extended variants
information (count: 209 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs10157158	0.97[ASN][1000 genomes]
rs10157457	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10157990	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10157991	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10158388	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10159083	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10494350	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494351	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494352	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494353	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494354	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10494355	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1133805	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1133806	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11582439	0.86[ASN][1000 genomes]
rs11588994	0.89[ASN][1000 genomes]
rs12239492	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12239719	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12385723	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12385733	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12725465	0.89[ASN][1000 genomes]
rs12730813	0.88[ASN][1000 genomes]
rs12738660	0.89[ASN][1000 genomes]
rs12745476	0.88[ASN][1000 genomes]
rs12757174	0.87[ASN][1000 genomes]
rs13374037	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13375385	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13375937	0.84[ASN][1000 genomes]
rs13376158	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832809	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16832811	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16832813	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16832817	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16832820	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16832823	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16832824	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16832826	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16832835	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832842	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832846	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832851	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832854	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832869	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832871	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832874	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832883	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16832884	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832887	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832892	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16832894	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832897	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832900	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832902	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832908	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16832922	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16832948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832949	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28742974	0.88[AFR][1000 genomes]
rs3087596	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34538569	0.89[ASN][1000 genomes]
rs34872203	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35006684	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs35130144	0.84[ASN][1000 genomes]
rs35215727	0.87[ASN][1000 genomes]
rs35680024	0.88[ASN][1000 genomes]
rs3934593	0.89[ASN][1000 genomes]
rs3935401	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077289	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077290	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077631	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41270861	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4255402	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4291521	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4319356	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4360541	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4400628	0.84[ASN][1000 genomes]
rs4463689	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4469725	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474277	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4477296	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4481873	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4525064	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4534403	0.88[ASN][1000 genomes]
rs4534404	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4534405	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4585997	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4600063	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4622080	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4631719	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4634926	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4634927	0.88[ASN][1000 genomes]
rs55674249	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55682614	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55690323	0.82[ASN][1000 genomes]
rs55694670	0.89[EUR][1000 genomes]
rs55698724	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55729989	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55747162	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55775286	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55783815	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55807618	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55809622	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55839314	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55898518	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55929617	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55961103	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55962831	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55981028	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55996762	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56007456	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56028608	0.90[ASN][1000 genomes]
rs56062031	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56071922	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56122953	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56169917	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56269923	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56280055	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56290916	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56291729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56355322	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56358807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56406825	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56411570	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56868836	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57007882	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57154376	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57270150	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57306652	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57421557	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57473118	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57474688	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57835711	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57841279	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57858140	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58055613	0.86[ASN][1000 genomes]
rs58138146	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58418155	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58758353	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58840032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58842513	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58874147	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59037769	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59191996	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59340690	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59544428	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59559479	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59690240	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59747425	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59774375	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59840298	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60078979	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60179510	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60261157	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60309040	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60345130	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60382588	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60405593	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60435895	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60792683	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60799370	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60882053	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61181161	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61219424	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61299084	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61304797	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61308286	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61410886	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61447446	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61461118	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61576374	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61608953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61618989	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61653684	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61734585	0.90[AFR][1000 genomes]
rs6668174	0.95[ASN][1000 genomes]
rs6670076	0.89[ASN][1000 genomes]
rs6675552	0.89[ASN][1000 genomes]
rs6688180	0.89[ASN][1000 genomes]
rs6693070	0.84[ASN][1000 genomes]
rs7412460	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74124931	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74124945	0.81[ASN][1000 genomes]
rs74127622	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74127629	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74127630	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74127635	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74127636	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74127638	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74127639	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74127640	0.89[EUR][1000 genomes]
rs74127641	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74127657	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74127658	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7542784	0.88[ASN][1000 genomes]
rs9330294	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9970904	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs74124933	RP11-122G18.5	cis	Artery Tibial	GTEx
rs74124933	RP11-122G18.5	cis	Muscle Skeletal	GTEx
rs74124933	RP11-122G18.5	cis	Thyroid	GTEx
rs74124933	SDHC	cis	Whole Blood	GTEx
rs74124933	RP11-122G18.5	cis	Esophagus Mucosa	GTEx
rs74124933	RP11-122G18.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161368000-161370600	Active TSS	Colon Smooth Muscle	Colon
2	chr1:161368200-161370200	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr1:161368200-161370600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:161368200-161370800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:161368400-161370600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:161368400-161370600	Active TSS	HSMM	muscle
7	chr1:161368400-161370600	Active TSS	K562	blood
8	chr1:161368400-161371000	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:161368600-161370200	Active TSS	Primary T cells from cord blood	blood
10	chr1:161368600-161370200	Active TSS	Brain Angular Gyrus	brain
11	chr1:161368600-161370200	Active TSS	Brain Substantia Nigra	brain
12	chr1:161368600-161370200	Active TSS	Fetal Intestine Small	intestine
13	chr1:161368600-161370200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:161368600-161370200	Active TSS	NHDF-Ad	bronchial
15	chr1:161368600-161370400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr1:161368600-161370400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:161368600-161370400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:161368600-161370400	Active TSS	Liver	Liver
19	chr1:161368600-161370400	Active TSS	Fetal Heart	heart
20	chr1:161368600-161370400	Active TSS	Fetal Intestine Large	intestine
21	chr1:161368600-161370400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr1:161368600-161370600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:161368600-161370600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:161368600-161370600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:161368600-161370600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:161368600-161370600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:161368600-161370600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:161368600-161370600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:161368600-161370600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:161368600-161370600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:161368600-161370600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:161368600-161370600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:161368600-161370600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:161368600-161370600	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:161368600-161370600	Active TSS	Colonic Mucosa	Colon
36	chr1:161368600-161370600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:161368600-161370600	Active TSS	Fetal Kidney	kidney
38	chr1:161368600-161370600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:161368600-161370600	Active TSS	Thymus	Thymus
40	chr1:161368600-161370600	Active TSS	HSMMtube	muscle
41	chr1:161368600-161370800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:161368600-161370800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:161368600-161370800	Active TSS	Psoas Muscle	Psoas
44	chr1:161368600-161370800	Active TSS	Right Ventricle	heart
45	chr1:161368600-161371000	Active TSS	Brain Anterior Caudate	brain
46	chr1:161368600-161371000	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:161368800-161370000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr1:161368800-161370000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:161368800-161370000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:161368800-161370000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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