Variant report

Variant	rs2277911
Chromosome Location	chr7:65958625-65958626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:504)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:504 , 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	TCF12	chr7:65958287-65958939	GM12878	blood:	n/a	n/a
2	TAF1	chr7:65958117-65959188	K562	blood:	n/a	n/a
3	FOXA2	chr7:65958326-65958947	A549	lung:	n/a	n/a
4	EP300	chr7:65958304-65958942	GM12878	blood:	n/a	n/a
5	GABPA	chr7:65958405-65958839	K562	blood:	n/a	n/a
6	JUND	chr7:65958328-65958832	HepG2	liver:	n/a	chr7:65958592-65958601 chr7:65958649-65958658
7	MAFK	chr7:65958329-65958859	K562	blood:	n/a	n/a
8	CHD2	chr7:65958160-65959119	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:65958155-65959141	MCF-7	breast:	n/a	n/a
10	IRF1	chr7:65958304-65958942	K562	blood:	n/a	n/a
11	GTF2F1	chr7:65958398-65958790	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:65958500-65958650	HPAF	blood vessel:	n/a	n/a
13	ZMIZ1	chr7:65958200-65959052	K562	blood:	n/a	n/a
14	JUND	chr7:65958264-65958981	A549	lung:	n/a	chr7:65958592-65958601 chr7:65958649-65958658
15	FOS	chr7:65958420-65958768	MCF10A-Er-Src	breast:	n/a	chr7:65958592-65958601 chr7:65958649-65958658
16	TAF1	chr7:65958410-65959061	H1-neurons	neurons:	n/a	n/a
17	TBL1XR1	chr7:65958332-65958957	K562	blood:	n/a	n/a
18	POLR2A	chr7:65957915-65959023	HCT-116	colon:	n/a	n/a
19	HDAC2	chr7:65958422-65958920	MCF-7	breast:	n/a	n/a
20	TAF1	chr7:65958186-65959009	GM12891	blood:	n/a	n/a
21	CREB1	chr7:65958209-65958860	A549	lung:	n/a	chr7:65958590-65958603
22	ATF2	chr7:65957990-65958817	H1-hESC	embryonic stem cell:	n/a	chr7:65958591-65958602
23	CTCF	chr7:65958407-65958628	SK-N-SH_RA	brain:	n/a	n/a
24	MYC	chr7:65958485-65958912	H1-hESC	embryonic stem cell:	n/a	n/a
25	GATA3	chr7:65958349-65958771	T-47D	breast:	n/a	n/a
26	REST	chr7:65958403-65958967	K562	blood:	n/a	n/a
27	POLR2A	chr7:65958226-65959062	Gliobla	brain:	n/a	n/a
28	MYC	chr7:65958365-65958840	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr7:65958427-65958682	MCF10A-Er-Src	breast:	n/a	chr7:65958592-65958601 chr7:65958649-65958658
30	NFIC	chr7:65958280-65958995	HepG2	liver:	n/a	n/a
31	TAF1	chr7:65958103-65958728	GM12892	blood:	n/a	n/a
32	CEBPB	chr7:65958151-65958737	GM12878	blood:	n/a	n/a
33	CUX1	chr7:65958324-65958895	K562	blood:	n/a	n/a
34	CREB1	chr7:65958158-65959075	H1-hESC	embryonic stem cell:	n/a	chr7:65958590-65958603
35	BRCA1	chr7:65958412-65958935	HepG2	liver:	n/a	n/a
36	CUX1	chr7:65958372-65958814	GM12878	blood:	n/a	n/a
37	STAT3	chr7:65958351-65958884	Hela-S3	cervix:	n/a	n/a
38	SP1	chr7:65958074-65959023	GM12878	blood:	n/a	chr7:65958646-65958667 chr7:65958630-65958639 chr7:65958629-65958641 chr7:65958629-65958640 chr7:65958629-65958641
39	GATA1	chr7:65958341-65959057	PBDE	blood:	n/a	n/a
40	CHD2	chr7:65958152-65958954	HepG2	liver:	n/a	n/a
41	PAX5	chr7:65958406-65959024	GM12892	blood:	n/a	n/a
42	MYC	chr7:65958405-65958994	MCF-7	breast:	n/a	n/a
43	USF1	chr7:65958317-65958773	A549	lung:	n/a	n/a
44	POLR2A	chr7:65957773-65959235	GM19099	blood:	n/a	n/a
45	SP1	chr7:65958259-65958779	GM12878	blood:	n/a	chr7:65958646-65958667 chr7:65958630-65958639 chr7:65958629-65958641 chr7:65958629-65958640 chr7:65958629-65958641
46	JUN	chr7:65958459-65958767	H1-hESC	embryonic stem cell:	n/a	chr7:65958592-65958601 chr7:65958649-65958658
47	MYC	chr7:65957572-65958981	K562	blood:	n/a	n/a
48	POLR2A	chr7:65958185-65958942	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:65957384-65959133	GM12892	blood:	n/a	n/a
50	CHD2	chr7:65957832-65959032	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65958608-65958658	AG09309	skin:	n/a
2	chr7:65958596-65958646	Hela-S3	cervix:	n/a
3	chr7:65958608-65958658	ProgFib	skin:	n/a
4	chr7:65958596-65958646	PANC-1	pancreas:	n/a
5	chr7:65958596-65958646	NH-A	brain:	n/a
6	chr7:65958608-65958658	RPTEC	kidney:	n/a
7	chr7:65958596-65958646	HCF	heart:	n/a
8	chr7:65958608-65958658	HCT-116	colon:	n/a
9	chr7:65958596-65958646	MCF-7	breast:	n/a
10	chr7:65958608-65958658	AoSMC	blood vessel:	n/a
11	chr7:65958596-65958646	HEK293	kidney:	embryo
12	chr7:65958608-65958658	HEEpiC	esophagus:	n/a
13	chr7:65958608-65958658	HepG2	liver:	n/a
14	chr7:65958608-65958658	NB4	blood:	n/a
15	chr7:65958596-65958646	SK-N-MC	brain:	n/a
16	chr7:65958608-65958658	PFSK-1	brain:	n/a
17	chr7:65958608-65958658	BJ	skin:	n/a
18	chr7:65958596-65958646	Jurkat	blood:	n/a
19	chr7:65958608-65958658	LNCaP	prostate:	n/a
20	chr7:65958608-65958658	NHBE	bronchial:	n/a
21	chr7:65958608-65958658	CMK	blood:	n/a
22	chr7:65958596-65958646	H1-hESC	embryonic stem cell:	embryo
23	chr7:65958608-65958658	AG10803	skin:	n/a
24	chr7:65958608-65958658	PANC-1	pancreas:	n/a
25	chr7:65958596-65958646	NHDF-neo	bronchial:	n/a
26	chr7:65958608-65958658	U87	brain:	n/a
27	chr7:65958608-65958658	BE2_C	brain:	n/a
28	chr7:65958596-65958646	HUVEC	blood vessel:	n/a
29	chr7:65958596-65958646	PrEC	prostate:	n/a
30	chr7:65958608-65958658	GM12891	blood:	n/a
31	chr7:65958596-65958646	HMEC	breast:	n/a
32	chr7:65958596-65958646	A549	lung:	n/a
33	chr7:65958596-65958646	Caco-2	colon:	n/a
34	chr7:65958596-65958646	PFSK-1	brain:	n/a
35	chr7:65958596-65958646	HL-60	blood:	n/a
36	chr7:65958596-65958646	NT2-D1	testis:	n/a
37	chr7:65958608-65958658	HIPEpiC	eye:	n/a
38	chr7:65958608-65958658	HNPCEpiC	eye:	n/a
39	chr7:65958608-65958658	SAEC	small airway:	n/a
40	chr7:65958608-65958658	MCF-7	breast:	n/a
41	chr7:65958596-65958646	HRCEpiC	kidney:	n/a
42	chr7:65958608-65958658	HCPEpiC	choroid plexus:	n/a
43	chr7:65958596-65958646	SKMC	muscle:	n/a
44	chr7:65958608-65958658	GM12878	blood:	n/a
45	chr7:65958608-65958658	SK-N-SH	brain:	n/a
46	chr7:65958596-65958646	BE2_C	brain:	n/a
47	chr7:65958608-65958658	GM19239	blood:	n/a
48	chr7:65958596-65958646	RPTEC	kidney:	n/a
49	chr7:65958608-65958658	ovcar-3	ovarian:	n/a
50	chr7:65958608-65958658	AG04449	skin:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151964898..151965662-chr7:65958265..65958765,2	Hela-S3	cervix:
2	chr7:65958424..65959012-chr7:105162357..105162865,2	NB4	blood:
3	chr7:65958036..65958685-chr7:66309752..66310594,2	Hela-S3	cervix:
4	chr14:91976833..91977386-chr7:65958200..65958825,2	Hela-S3	cervix:
5	chr7:65957845..65960105-chr7:65973887..65976639,2	K562	blood:
6	chr19:16739452..16740014-chr7:65958189..65958701,2	Hela-S3	cervix:
7	chr1:144533892..144534669-chr7:65958197..65958873,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000223473	TF binding region
ENSG00000230189	TF binding region
ENSG00000244510	TF binding region
ENSG00000237310	TF binding region
ENSG00000244510	CpG island
ENSG00000230189	CpG island
ENSG00000237310	CpG island
ENSG00000223473	CpG island
ENSG00000201699	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000105085	Chromatin interaction
ENSG00000100796	Chromatin interaction
ENSG00000234500	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1002053	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10215948	0.82[EUR][1000 genomes]
rs10257427	0.82[EUR][1000 genomes]
rs10267430	0.81[EUR][1000 genomes]
rs10278816	0.84[AFR][1000 genomes]
rs10281080	0.82[AFR][1000 genomes]
rs10755833	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950041	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10950044	0.81[AFR][1000 genomes]
rs11765965	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532998	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12533585	0.85[AFR][1000 genomes]
rs12533997	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12535036	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12668936	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673810	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698520	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698521	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698523	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698532	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698534	0.85[AFR][1000 genomes]
rs13224319	0.82[AFR][1000 genomes]
rs13227219	0.83[ASN][1000 genomes]
rs13309022	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363055	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1695815	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1807064	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1833495	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1968225	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974769	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981798	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981799	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2036264	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2042133	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2077593	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2161065	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173570	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2302918	0.83[AFR][1000 genomes]
rs2420591	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420599	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2420608	0.81[AMR][1000 genomes]
rs28698552	0.81[AFR][1000 genomes]
rs34406470	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35149210	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35410151	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735148	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3857684	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3857686	0.80[AFR][1000 genomes]
rs3898855	0.82[AFR][1000 genomes]
rs3935391	0.82[EUR][1000 genomes]
rs3981131	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717292	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4717299	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4717300	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718343	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4718344	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4718349	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4718357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718358	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55748098	0.81[EUR][1000 genomes]
rs60193905	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62465434	0.82[AFR][1000 genomes]
rs6460291	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6460292	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6460295	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460296	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6460300	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460301	0.83[AMR][1000 genomes]
rs6460302	0.83[AMR][1000 genomes]
rs6945019	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6945032	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6945843	0.81[EUR][1000 genomes]
rs6949920	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6956179	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6957199	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6958200	0.83[EUR][1000 genomes]
rs6958271	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6958277	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961155	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961990	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6965056	0.80[AFR][1000 genomes]
rs6967996	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6970030	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6970357	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6970860	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6978429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6978721	0.82[EUR][1000 genomes]
rs6979382	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980451	0.83[AMR][1000 genomes]
rs709595	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs709597	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7781061	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781698	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7783613	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs778682	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs778685	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778689	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs778692	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778694	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778695	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778699	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778700	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778706	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs778708	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs778709	0.81[EUR][1000 genomes]
rs778710	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778712	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs778721	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs778723	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778726	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs778735	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7788984	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789554	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789768	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7792762	0.83[EUR][1000 genomes]
rs7794930	0.81[AMR][1000 genomes]
rs7799834	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7803416	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803424	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs801190	0.81[AFR][1000 genomes]
rs801216	0.84[AFR][1000 genomes]
rs801217	0.84[AFR][1000 genomes]
rs937495	0.82[EUR][1000 genomes]
rs9691480	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9791895	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9969301	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv981508	chr7:65941357-65958736	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs2277911	GTF2IRD1P1	cis	Thyroid	GTEx
rs2277911	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs2277911	GS1-124K5.4	cis	Artery Aorta	GTEx
rs2277911	RP4-756H11.3	cis	Thyroid	GTEx
rs2277911	GS1-124K5.4	cis	Whole Blood	GTEx
rs2277911	RP4-756H11.3	cis	Artery Aorta	GTEx
rs2277911	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs2277911	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs2277911	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs2277911	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs2277911	RNU6-96P	cis	Thyroid	GTEx
rs2277911	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs2277911	GS1-124K5.4	cis	Stomach	GTEx
rs2277911	RP4-756H11.3	cis	Artery Tibial	GTEx
rs2277911	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs2277911	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs2277911	RP4-756H11.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65957400-65959600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:65957400-65959600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:65957400-65959800	Active TSS	A549	lung
4	chr7:65957600-65959200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65957600-65959200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:65957600-65959200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:65957600-65959400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:65957600-65959400	Active TSS	Esophagus	oesophagus
9	chr7:65957600-65959400	Active TSS	Fetal Brain Female	brain
10	chr7:65957600-65959400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:65957600-65959400	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:65957600-65959400	Active TSS	HSMM	muscle
13	chr7:65957600-65959400	Active TSS	Osteobl	bone
14	chr7:65957600-65959600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:65957600-65959600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:65957600-65959600	Active TSS	Fetal Intestine Large	intestine
17	chr7:65957600-65959800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:65957800-65959000	Bivalent/Poised TSS	HepG2	liver
19	chr7:65957800-65959200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:65957800-65959200	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr7:65957800-65959200	Active TSS	Small Intestine	intestine
22	chr7:65957800-65959400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:65957800-65959400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:65957800-65959400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:65957800-65959400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:65957800-65959400	Active TSS	HSMMtube	muscle
27	chr7:65957800-65959600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:65957800-65959600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:65957800-65959600	Active TSS	Colonic Mucosa	Colon
30	chr7:65957800-65959600	Active TSS	NHEK	skin
31	chr7:65957800-65959800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:65957800-65959800	Active TSS	K562	blood
33	chr7:65957800-65960000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:65958000-65959000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:65958000-65959000	Active TSS	Primary B cells from cord blood	blood
36	chr7:65958000-65959000	Active TSS	Adipose Nuclei	Adipose
37	chr7:65958000-65959000	Active TSS	Fetal Muscle Trunk	muscle
38	chr7:65958000-65959000	Active TSS	Placenta	Placenta
39	chr7:65958000-65959200	Active TSS	Left Ventricle	heart
40	chr7:65958000-65959200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr7:65958000-65959200	Active TSS	Stomach Mucosa	stomach
42	chr7:65958000-65959400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:65958000-65959400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr7:65958000-65959400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:65958000-65959400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr7:65958000-65959400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr7:65958000-65959400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:65958000-65959400	Active TSS	Aorta	Aorta
49	chr7:65958000-65959400	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:65958000-65959400	Active TSS	Brain Hippocampus Middle	brain

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