Variant report

Variant	rs58840032
Chromosome Location	chr1:161368770-161368771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

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	GABPA	chr1:161368707-161370132	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:161368644-161370176	H1-hESC	embryonic stem cell:	n/a	n/a
4	IRF1	chr1:161368676-161370403	K562	blood:	n/a	chr1:161368760-161368774 chr1:161368756-161368776 chr1:161368764-161368774
5	HEY1	chr1:161368711-161369976	K562	blood:	n/a	chr1:161369306-161369321
6	POLR2A	chr1:161368767-161370017	Raji	blood:	n/a	n/a
7	MAX	chr1:161368729-161370019	ECC-1	luminal epithelium:	n/a	n/a
8	UBTF	chr1:161368676-161370132	K562	blood:	n/a	n/a
9	SETDB1	chr1:161368685-161369388	U2OS	brain:	n/a	n/a
10	POLR2A	chr1:161368719-161370045	MCF10A-Er-Src	breast:	n/a	n/a
11	GABPA	chr1:161368643-161370427	A549	lung:	n/a	n/a
12	REST	chr1:161368722-161370077	A549	lung:	n/a	n/a
13	MAX	chr1:161368664-161370222	SK-N-SH	brain:	n/a	n/a
14	ATF2	chr1:161368726-161369802	H1-hESC	embryonic stem cell:	n/a	n/a
15	HEY1	chr1:161368735-161370033	K562	blood:	n/a	chr1:161369306-161369321
16	POLR2A	chr1:161368740-161369596	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr1:161368612-161370331	GM12878	blood:	n/a	n/a
18	ARID3A	chr1:161368722-161369741	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:161368706-161370011	ECC-1	luminal epithelium:	n/a	n/a
20	CREB1	chr1:161368606-161370167	HepG2	liver:	n/a	n/a
21	CREB1	chr1:161368666-161369854	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:161368763-161370017	A549	lung:	n/a	n/a
23	POLR2A	chr1:161368656-161369896	IMR90	lung:	n/a	n/a
24	TAF1	chr1:161368720-161370084	ECC-1	luminal epithelium:	n/a	n/a
25	ATF3	chr1:161368766-161370153	A549	lung:	n/a	n/a
26	TCF12	chr1:161367507-161370531	A549	lung:	n/a	n/a
27	TCF12	chr1:161368723-161369915	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:161368745-161369857	K562	blood:	n/a	n/a
29	POLR2A	chr1:161368697-161370178	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:161368756-161370063	K562	blood:	n/a	n/a
31	POLR2A	chr1:161368765-161370033	SK-N-SH	brain:	n/a	n/a
32	GABPA	chr1:161368540-161370263	MCF-7	breast:	n/a	n/a
33	CREB1	chr1:161368689-161369626	K562	blood:	n/a	n/a
34	NR2F2	chr1:161368700-161369980	K562	blood:	n/a	n/a
35	POLR2A	chr1:161368732-161369954	HUVEC	blood vessel:	n/a	n/a
36	GABPA	chr1:161368652-161370104	SK-N-SH	brain:	n/a	n/a
37	JUN	chr1:161368476-161370665	K562	blood:	n/a	n/a
38	MAX	chr1:161368744-161369801	H1-hESC	embryonic stem cell:	n/a	n/a
39	FOSL2	chr1:161368631-161370157	A549	lung:	n/a	n/a
40	POLR2A	chr1:161368737-161370054	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr1:161368680-161370169	HL-60	blood:	n/a	n/a
42	TAF1	chr1:161368761-161369969	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr1:161368738-161370134	HepG2	liver:	n/a	n/a
44	REST	chr1:161368609-161370555	H1-neurons	neurons:	n/a	n/a
45	MYC	chr1:161368547-161370370	K562	blood:	n/a	n/a
46	CEBPD	chr1:161368651-161369622	K562	blood:	n/a	n/a
47	SIN3AK20	chr1:161368728-161369108	A549	lung:	n/a	n/a
48	POLR2A	chr1:161368728-161369982	GM12892	blood:	n/a	n/a
49	TAF1	chr1:161368750-161369637	SK-N-SH	brain:	n/a	n/a
50	MYBL2	chr1:161368659-161370271	HepG2	liver:	n/a	n/a

No data

(count:20 , 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	chr1:161352260..161354753-chr1:161367912..161370247,2	K562	blood:
5	chr1:161147044..161148671-chr1:161367172..161368883,2	K562	blood:
6	chr1:161169854..161174151-chr1:161367669..161371061,6	K562	blood:
7	chr1:161368392..161369390-chr22:40440252..40440911,2	Hela-S3	cervix:
8	chr1:161014588..161016385-chr1:161367824..161369724,2	K562	blood:
9	chr1:161277021..161278585-chr1:161367797..161369417,2	K562	blood:
10	chr1:161368637..161369445-chr7:32534785..32535506,2	Hela-S3	cervix:
11	chr1:161367430..161368932-chr1:161384466..161386892,2	MCF-7	breast:
12	chr1:161178084..161179707-chr1:161368204..161370692,2	K562	blood:
13	chr1:161360479..161362170-chr1:161367532..161370441,2	MCF-7	breast:
14	chr1:161367923..161370104-chr21:41756432..41758062,2	MCF-7	breast:
15	chr1:161133577..161136315-chr1:161367610..161370978,3	MCF-7	breast:
16	chr1:161367170..161369307-chr1:161718494..161721063,2	MCF-7	breast:
17	chr1:161367523..161369303-chr1:161373719..161375547,2	MCF-7	breast:
18	chr1:161367820..161369576-chr1:173836178..173838599,2	MCF-7	breast:
19	chr1:161368220..161370476-chr1:161391419..161393539,2	K562	blood:
20	chr1:161358508..161360458-chr1:161366457..161368829,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-481P	TF binding region
ENSG00000185278	Chromatin interaction
ENSG00000261202	Chromatin interaction
ENSG00000106355	Chromatin interaction
ENSG00000158887	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000143258	Chromatin interaction
ENSG00000100354	Chromatin interaction
ENSG00000081721	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000105778	Chromatin interaction

Extended variants
information (count: 209 )
Associated
traits (count: 7 )

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]
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]
rs74124933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs58840032	SDHC	cis	Whole Blood	GTEx
rs58840032	RP11-122G18.5	cis	Muscle Skeletal	GTEx
rs58840032	SDHC	Cis_1M	lymphoblastoid	RTeQTL
rs58840032	RP11-122G18.5	cis	Thyroid	GTEx
rs58840032	RP11-122G18.5	cis	Artery Tibial	GTEx
rs58840032	RP11-122G18.5	cis	Adipose Subcutaneous	GTEx
rs58840032	RP11-122G18.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161360600-161368800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:161360600-161368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:161360600-161368800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:161360600-161368800	Weak transcription	Ovary	ovary
5	chr1:161361400-161368800	Weak transcription	Fetal Brain Male	brain
6	chr1:161364400-161368800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:161368000-161368800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:161368000-161368800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:161368000-161369200	Flanking Active TSS	Dnd41	blood
10	chr1:161368000-161370600	Active TSS	Colon Smooth Muscle	Colon
11	chr1:161368200-161368800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr1:161368200-161368800	Enhancers	Stomach Mucosa	stomach
13	chr1:161368200-161369200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:161368200-161370200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:161368200-161370600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:161368200-161370800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:161368400-161368800	Active TSS	Brain Germinal Matrix	brain
18	chr1:161368400-161368800	Active TSS	HepG2	liver
19	chr1:161368400-161369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:161368400-161369000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:161368400-161370600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:161368400-161370600	Active TSS	HSMM	muscle
23	chr1:161368400-161370600	Active TSS	K562	blood
24	chr1:161368400-161371000	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:161368600-161368800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:161368600-161368800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:161368600-161368800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:161368600-161368800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:161368600-161368800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr1:161368600-161368800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:161368600-161368800	Active TSS	Fetal Thymus	thymus
32	chr1:161368600-161368800	Active TSS	Right Atrium	heart
33	chr1:161368600-161368800	Active TSS	HMEC	breast
34	chr1:161368600-161369000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:161368600-161369000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:161368600-161369000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:161368600-161369000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr1:161368600-161369000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr1:161368600-161369000	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr1:161368600-161369000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr1:161368600-161369000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:161368600-161369000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:161368600-161369000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr1:161368600-161369000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:161368600-161369000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:161368600-161369000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:161368600-161369000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:161368600-161369000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr1:161368600-161369000	Flanking Active TSS	Fetal Brain Female	brain
50	chr1:161368600-161369000	Flanking Active TSS	Fetal Lung	lung

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Variant report

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