Variant report

Variant	rs709595
Chromosome Location	chr7:65817333-65817334
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr7:65817127-65817457	A549	lung:	n/a	n/a
2	CTCF	chr7:65817240-65817390	HMEC	breast:	n/a	n/a
3	CTCF	chr7:65817240-65817390	HCPEpiC	choroid plexus:	n/a	n/a
4	SMC3	chr7:65817192-65817432	HepG2	liver:	n/a	n/a
5	MAX	chr7:65817250-65817600	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:65817260-65817410	HCM	heart:	n/a	n/a
7	CTCF	chr7:65817220-65817370	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr7:65817280-65817430	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr7:65817220-65817370	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr7:65817240-65817390	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr7:65817220-65817370	HRE	kidney:	n/a	n/a
12	CTCF	chr7:65817315-65817437	MCF-7	breast:	n/a	n/a
13	RAD21	chr7:65817184-65817474	IMR90	lung:	n/a	chr7:65817332-65817344
14	CTCF	chr7:65817260-65817410	BE2_C	brain:	n/a	n/a
15	CTCF	chr7:65817260-65817410	NHDF-neo	bronchial:	n/a	n/a
16	MAX	chr7:65817092-65817632	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:65817260-65817410	HFF-Myc	foreskin:	n/a	n/a
18	TBP	chr7:65817064-65817414	H1-hESC	embryonic stem cell:	n/a	n/a
19	MXI1	chr7:65817144-65817571	H1-hESC	embryonic stem cell:	n/a	n/a
20	FOXA1	chr7:65817017-65817475	HepG2	liver:	n/a	n/a
21	CTCF	chr7:65817240-65817390	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr7:65817260-65817410	AG04449	skin:	n/a	n/a
23	ZNF143	chr7:65817036-65817424	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3A	chr7:65817082-65817579	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:65817277-65817422	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:65817299-65817429	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:65817333-65817431	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr7:65817260-65817410	HMEC	breast:	n/a	n/a
29	MAX	chr7:65817191-65817554	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr7:65817311-65817413	K562	blood:	n/a	n/a
31	CTCF	chr7:65817260-65817410	HFF	foreskin:	n/a	n/a
32	STAT3	chr7:65817315-65817366	MCF10A-Er-Src	breast:	n/a	n/a
33	CTCF	chr7:65817273-65817434	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:65817280-65817402	HepG2	liver:	n/a	n/a
35	CTCF	chr7:65817273-65817396	NHEK	skin:	n/a	n/a
36	FOXA1	chr7:65817110-65817537	HepG2	liver:	n/a	n/a
37	CTCF	chr7:65817260-65817410	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr7:65817220-65817370	BJ	skin:	n/a	n/a
39	CTCF	chr7:65817327-65817430	MCF-7	breast:	n/a	n/a
40	CTCF	chr7:65817220-65817370	HAc	cerebellar:	n/a	n/a
41	CTCF	chr7:65817240-65817390	HCFaa	heart:	n/a	n/a
42	CTCF	chr7:65817248-65817503	K562	blood:	n/a	n/a
43	CTCF	chr7:65817240-65817390	AG09319	gingival:	n/a	n/a
44	CTCF	chr7:65817300-65817450	NHEK	skin:	n/a	n/a
45	CTCF	chr7:65817240-65817390	HEK293	kidney:	n/a	n/a
46	CTCF	chr7:65817260-65817410	AG10803	skin:	n/a	n/a
47	CTCF	chr7:65817280-65817430	AG04450	lung:	n/a	n/a
48	FOXA1	chr7:65817027-65817476	HepG2	liver:	n/a	n/a
49	CTCF	chr7:65817280-65817430	Caco-2	colon:	n/a	n/a
50	CTCF	chr7:65817247-65817538	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
TPST1	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1000464	0.89[CEU][hapmap]
rs1002053	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10224872	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs10228885	0.89[CEU][hapmap]
rs10240949	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10256544	0.89[CEU][hapmap]
rs10257427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10260426	0.89[CEU][hapmap]
rs10261398	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs10267430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10282433	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs10447522	0.89[CEU][hapmap]
rs10755833	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10950041	0.81[EUR][1000 genomes]
rs11760844	0.89[CEU][hapmap]
rs11765965	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11974219	0.81[EUR][1000 genomes]
rs11974264	0.82[EUR][1000 genomes]
rs11984115	0.89[CEU][hapmap]
rs12532998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes]
rs12533997	0.82[EUR][1000 genomes]
rs12535036	0.82[EUR][1000 genomes]
rs12537823	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs12668936	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673450	0.89[CEU][hapmap]
rs12673810	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698521	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698523	0.82[EUR][1000 genomes]
rs13225383	0.81[EUR][1000 genomes]
rs13227219	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13309022	0.82[EUR][1000 genomes]
rs1363055	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1565531	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1643395	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1695815	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1695820	0.93[CEU][hapmap]
rs1807064	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1833495	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1875057	0.88[CEU][hapmap]
rs1968225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1974769	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2036263	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2036264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042133	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2077593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2088653	0.89[CEU][hapmap]
rs2088655	0.89[CEU][hapmap]
rs2161065	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2173570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277911	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2302918	0.83[YRI][hapmap]
rs2420591	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2420599	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28682868	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2901152	0.89[CEU][hapmap]
rs34406470	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35028832	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35149210	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3735148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs3857684	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3935391	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3981131	0.83[EUR][1000 genomes]
rs4078376	0.82[AMR][1000 genomes]
rs4149461	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs4236208	0.89[CEU][hapmap];0.83[CHB][hapmap]
rs4717292	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4717299	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4717300	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718330	0.89[CEU][hapmap]
rs4718343	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718344	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718349	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718357	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55748098	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60193905	0.81[EUR][1000 genomes]
rs6460282	0.89[CEU][hapmap]
rs6460290	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6460291	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6460292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460293	0.89[CEU][hapmap]
rs6460295	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6460300	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6460302	0.89[CEU][hapmap]
rs6460304	0.89[CEU][hapmap]
rs6944374	0.85[CEU][hapmap]
rs6945019	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6945032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6945843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6947339	0.89[CEU][hapmap]
rs6949920	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6950137	0.89[CEU][hapmap]
rs6951503	0.85[CEU][hapmap]
rs6952182	0.89[CEU][hapmap]
rs6956179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957199	0.81[EUR][1000 genomes]
rs6958271	0.80[EUR][1000 genomes]
rs6958277	0.80[EUR][1000 genomes]
rs6959268	0.89[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs6960446	0.89[CEU][hapmap]
rs6960476	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6961155	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6961990	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6962717	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs6963646	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6964437	0.89[CEU][hapmap]
rs6970030	0.82[EUR][1000 genomes]
rs6970357	0.82[EUR][1000 genomes]
rs6970860	0.81[EUR][1000 genomes]
rs6971509	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6974614	0.89[CEU][hapmap]
rs6977501	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6978429	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6978721	0.82[EUR][1000 genomes]
rs6979382	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs709596	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs709597	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781061	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7781698	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7782704	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7783613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783779	0.89[CEU][hapmap]
rs778680	0.82[AMR][1000 genomes]
rs778682	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778684	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs778685	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs778686	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs778689	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778692	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778694	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778695	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778697	0.89[CEU][hapmap]
rs778699	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778700	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778702	0.89[CEU][hapmap]
rs778706	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778708	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778709	0.88[EUR][1000 genomes]
rs778710	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778711	0.89[CEU][hapmap]
rs778712	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778720	0.88[CEU][hapmap]
rs778721	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs778723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs778724	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs778726	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs778727	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778728	0.83[AMR][1000 genomes]
rs778731	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778734	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs778735	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778736	0.89[CEU][hapmap]
rs7788984	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789554	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7791891	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798630	0.89[CEU][hapmap]
rs7799834	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7803416	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7803424	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs801217	0.87[YRI][hapmap]
rs875971	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs880166	0.89[CEU][hapmap]
rs937495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949930	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs9691480	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9791895	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9969301	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9986696	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs709595	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs709595	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs709595	GS1-124K5.4	cis	Stomach	GTEx
rs709595	GS1-124K5.4	cis	Artery Aorta	GTEx
rs709595	GS1-124K5.11	cis	Thyroid	GTEx
rs709595	GS1-124K5.4	cis	Whole Blood	GTEx
rs709595	RP4-756H11.3	cis	Thyroid	GTEx
rs709595	RP4-756H11.3	cis	Artery Tibial	GTEx
rs709595	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs709595	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs709595	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs709595	GTF2IRD1P1	cis	Thyroid	GTEx
rs709595	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs709595	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs709595	RP4-756H11.3	cis	lung	GTEx
rs709595	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs709595	RP4-756H11.3	cis	Artery Aorta	GTEx
rs709595	RNU6-96P	cis	Thyroid	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65805200-65843600	Weak transcription	Aorta	Aorta
2	chr7:65809600-65818600	Weak transcription	Liver	Liver
3	chr7:65813400-65821200	Weak transcription	Fetal Stomach	stomach
4	chr7:65813800-65820600	Weak transcription	Fetal Intestine Small	intestine
5	chr7:65814000-65843800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:65814200-65823800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:65814800-65818200	Weak transcription	Placenta	Placenta
8	chr7:65815000-65817400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:65815000-65824600	Weak transcription	Lung	lung
10	chr7:65816800-65817600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:65816800-65817600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:65817000-65817400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:65817000-65817400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:65817000-65817400	Enhancers	Fetal Lung	lung
15	chr7:65817000-65817600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:65817000-65817600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:65817000-65817600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:65817000-65817600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:65817000-65817600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:65817000-65817600	Flanking Active TSS	HMEC	breast
21	chr7:65817000-65817600	Enhancers	NH-A	brain
22	chr7:65817000-65817600	Enhancers	NHDF-Ad	bronchial
23	chr7:65817000-65817800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:65817000-65818000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:65817000-65818000	Flanking Active TSS	NHEK	skin
26	chr7:65817000-65819000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:65817000-65819000	Enhancers	Adipose Nuclei	Adipose
28	chr7:65817000-65819400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:65817000-65821000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:65817000-65843400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:65817200-65817400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:65817200-65817400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:65817200-65817400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:65817200-65817400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:65817200-65817400	Enhancers	Gastric	stomach
36	chr7:65817200-65817400	Flanking Active TSS	Ovary	ovary
37	chr7:65817200-65817400	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:65817200-65817400	Enhancers	Spleen	Spleen
39	chr7:65817200-65817600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:65817200-65817600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:65817200-65817600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:65817200-65817600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:65817200-65817600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:65817200-65817600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:65817200-65817600	Enhancers	Brain Anterior Caudate	brain
46	chr7:65817200-65817600	Enhancers	Brain Hippocampus Middle	brain
47	chr7:65817200-65817600	Enhancers	Fetal Kidney	kidney
48	chr7:65817200-65817600	Enhancers	Fetal Muscle Trunk	muscle
49	chr7:65817200-65817600	Enhancers	Left Ventricle	heart
50	chr7:65817200-65817600	Enhancers	Rectal Mucosa Donor 31	rectum

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