Variant report

Variant	rs909725
Chromosome Location	chr6:29720321-29720322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:29719953-29721132	GM18505	blood:	n/a	n/a
2	E2F6	chr6:29720260-29721197	K562	blood:	n/a	chr6:29720335-29720346 chr6:29720335-29720346 chr6:29720335-29720346
3	ZNF263	chr6:29719869-29721144	HEK293-T-REx	kidney:	n/a	chr6:29719945-29719954
4	POLR2A	chr6:29720057-29721137	GM12891	blood:	n/a	n/a
5	TFAP2A	chr6:29720186-29721347	Hela-S3	cervix:	n/a	chr6:29720555-29720566 chr6:29721050-29721060 chr6:29721050-29721060 chr6:29721050-29721060 chr6:29720437-29720449 chr6:29720555-29720566 chr6:29721048-29721060 chr6:29721050-29721060
6	GATA1	chr6:29719758-29721098	PBDE	blood:	n/a	n/a
7	TAF1	chr6:29720170-29721099	K562	blood:	n/a	n/a
8	POLR2A	chr6:29720074-29721167	Hela-S3	cervix:	n/a	n/a
9	NR2F2	chr6:29720181-29721219	K562	blood:	n/a	n/a
10	MAX	chr6:29720208-29721234	K562	blood:	n/a	chr6:29720727-29720737
11	TAF1	chr6:29720243-29721033	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr6:29720026-29721255	K562	blood:	n/a	n/a
13	NFIC	chr6:29720228-29721113	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:29719885-29721146	GM12892	blood:	n/a	n/a
15	TAF1	chr6:29720149-29720541	GM12892	blood:	n/a	n/a
16	POLR2A	chr6:29720012-29721177	Hela-S3	cervix:	n/a	n/a
17	MYC	chr6:29720200-29721175	K562	blood:	n/a	chr6:29720727-29720737
18	POLR2A	chr6:29719941-29721141	K562	blood:	n/a	n/a
19	UBTF	chr6:29720190-29721197	K562	blood:	n/a	n/a
20	HDAC2	chr6:29720222-29721192	MCF-7	breast:	n/a	chr6:29720419-29720428
21	CHD2	chr6:29720247-29720459	GM12878	blood:	n/a	n/a
22	CCNT2	chr6:29720314-29721176	K562	blood:	n/a	chr6:29721145-29721154 chr6:29721151-29721160
23	POLR2A	chr6:29720264-29721107	HUVEC	blood vessel:	n/a	n/a
24	HCFC1	chr6:29720210-29721180	K562	blood:	n/a	n/a
25	POLR2A	chr6:29720161-29721197	U87	brain:	n/a	n/a
26	TBP	chr6:29720101-29720410	GM12878	blood:	n/a	n/a
27	TCF7L2	chr6:29720275-29721184	HCT-116	colon:	n/a	n/a
28	JUND	chr6:29720317-29721225	K562	blood:	n/a	chr6:29720854-29720862
29	TBP	chr6:29720067-29721142	K562	blood:	n/a	n/a
30	MXI1	chr6:29720294-29721148	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr6:29720057-29721136	GM18526	blood:	n/a	n/a
32	POLR2A	chr6:29720143-29721148	Hela-S3	cervix:	n/a	n/a
33	HDAC2	chr6:29720288-29721129	K562	blood:	n/a	chr6:29720419-29720428
34	POLR2A	chr6:29719963-29721094	GM12878	blood:	n/a	n/a
35	EGR1	chr6:29720287-29721289	HCT-116	colon:	n/a	chr6:29721155-29721165 chr6:29721146-29721159 chr6:29720740-29720753 chr6:29720726-29720740 chr6:29720741-29720751 chr6:29720740-29720753 chr6:29720418-29720427 chr6:29720812-29720819 chr6:29720735-29720757
36	GABPA	chr6:29720186-29721167	MCF-7	breast:	n/a	n/a
37	POLR2A	chr6:29720136-29720611	GM12878	blood:	n/a	n/a
38	POU2F2	chr6:29720201-29720334	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:29720244-29721130	K562	blood:	n/a	n/a
40	POLR2A	chr6:29720031-29720788	GM12878	blood:	n/a	n/a
41	UBTF	chr6:29720223-29721170	K562	blood:	n/a	n/a
42	POLR2A	chr6:29720128-29721183	K562	blood:	n/a	n/a
43	SIN3A	chr6:29720068-29721172	H1-hESC	embryonic stem cell:	n/a	chr6:29720799-29720808
44	POLR2A	chr6:29720187-29721154	H1-hESC	embryonic stem cell:	n/a	n/a
45	RUNX3	chr6:29720049-29721229	GM12878	blood:	n/a	n/a
46	EBF1	chr6:29719915-29720444	GM12878	blood:	n/a	chr6:29720148-29720159
47	POLR2A	chr6:29720037-29721112	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:29719978-29721103	K562	blood:	n/a	n/a
49	RFX5	chr6:29719885-29721275	IMR90	lung:	n/a	n/a
50	HA-E2F1	chr6:29720026-29721044	MCF-7	breast:	n/a	chr6:29720335-29720346 chr6:29720335-29720346 chr6:29720335-29720346

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29720315-29720365	ProgFib	skin:	n/a
2	chr6:29720315-29720365	AoSMC	blood vessel:	n/a
3	chr6:29720315-29720365	AG09309	skin:	n/a
4	chr6:29720315-29720365	HAEpiC	amniotic membrane:	n/a
5	chr6:29720315-29720365	K562	blood:	n/a
6	chr6:29720315-29720365	Hela-S3	cervix:	n/a
7	chr6:29720315-29720365	GM12878	blood:	n/a
8	chr6:29720315-29720365	HCT-116	colon:	n/a
9	chr6:29720315-29720365	HL-60	blood:	n/a
10	chr6:29720315-29720365	NHDF-neo	bronchial:	n/a
11	chr6:29720315-29720365	HEEpiC	esophagus:	n/a
12	chr6:29720315-29720365	HRE	kidney:	n/a
13	chr6:29720315-29720365	NT2-D1	testis:	n/a
14	chr6:29720315-29720365	PFSK-1	brain:	n/a
15	chr6:29720315-29720365	Jurkat	blood:	n/a
16	chr6:29720315-29720365	LNCaP	prostate:	n/a
17	chr6:29720315-29720365	PrEC	prostate:	n/a
18	chr6:29720315-29720365	MCF10A-Er-Src	breast:	n/a
19	chr6:29720315-29720365	GM12891	blood:	n/a
20	chr6:29720315-29720365	GM12892	blood:	n/a
21	chr6:29720315-29720365	HCPEpiC	choroid plexus:	n/a
22	chr6:29720315-29720365	HepG2	liver:	n/a
23	chr6:29720315-29720365	T-47D	breast:	n/a
24	chr6:29720315-29720365	U87	brain:	n/a
25	chr6:29720315-29720365	SKMC	muscle:	n/a
26	chr6:29720315-29720365	MCF-7	breast:	n/a
27	chr6:29720315-29720365	NB4	blood:	n/a
28	chr6:29720315-29720365	Hepatocyte	liver:	n/a
29	chr6:29720315-29720365	RPTEC	kidney:	n/a
30	chr6:29720315-29720365	PANC-1	pancreas:	n/a
31	chr6:29720315-29720365	GM06990	blood:	n/a
32	chr6:29720315-29720365	GM19239	blood:	n/a
33	chr6:29720315-29720365	HRCEpiC	kidney:	n/a
34	chr6:29720315-29720365	ovcar-3	ovarian:	n/a
35	chr6:29720315-29720365	ECC-1	luminal epithelium:	n/a
36	chr6:29720315-29720365	SAEC	small airway:	n/a
37	chr6:29720315-29720365	AG04449	skin:	fetal
38	chr6:29720315-29720365	HCF	heart:	n/a
39	chr6:29720315-29720365	IMR90	lung:	fetal
40	chr6:29720315-29720365	AG09319	gingival:	n/a
41	chr6:29720315-29720365	NHBE	bronchial:	n/a
42	chr6:29720315-29720365	A549	lung:	n/a
43	chr6:29720315-29720365	HRPEpiC	eye:	n/a
44	chr6:29720315-29720365	SK-N-MC	brain:	n/a
45	chr6:29720315-29720365	AG04450	lung:	fetal
46	chr6:29720315-29720365	SK-N-SH_RA	brain:	n/a
47	chr6:29720315-29720365	Caco-2	colon:	n/a
48	chr6:29720315-29720365	BE2_C	brain:	n/a
49	chr6:29720315-29720365	AG10803	skin:	n/a
50	chr6:29720315-29720365	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr15:41408153..41408690-chr6:29720220..29720836,2	Hela-S3	cervix:
2	chr15:78730375..78731065-chr6:29720140..29720963,2	Hela-S3	cervix:
3	chr6:29719431..29722230-chr6:29728984..29731849,2	MCF-7	breast:
4	chr6:29720312..29720950-chr6:31164808..31165629,2	Hela-S3	cervix:
5	chr6:29720140..29720818-chr6:31462249..31463235,2	Hela-S3	cervix:
6	chr6:29705500..29706511-chr6:29720185..29721437,3	K562	blood:
7	chr6:29716316..29718223-chr6:29719581..29721724,2	MCF-7	breast:

Variant related genes	Relation type
MICE	TF binding region
ENSG00000272236	TF binding region
IFITM4P	TF binding region
HLA-F-AS1	TF binding region
IFITM4P	CpG island
HLA-F-AS1	CpG island
ENSG00000272236	CpG island
MICE	CpG island
ENSG00000273340	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000214922	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000199290	Chromatin interaction
ENSG00000206344	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000270896	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1059174	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1474610	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1610600	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610605	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610613	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1610626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610627	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610632	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610727	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1610728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610737	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610738	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610740	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1611278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1611279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611292	0.81[EUR][1000 genomes]
rs1611294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611297	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611300	0.85[EUR][1000 genomes]
rs1611352	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1625607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1625636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1626636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632447	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632956	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632958	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632959	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633012	0.83[EUR][1000 genomes]
rs1633025	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1633026	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1633036	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1633038	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1633042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633043	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633045	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633049	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633055	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633060	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633070	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1633071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633074	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1633076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633091	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1736910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1736911	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1736914	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1736916	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1736921	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1736995	0.80[EUR][1000 genomes]
rs1737008	0.83[EUR][1000 genomes]
rs1737022	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1737039	0.87[EUR][1000 genomes]
rs1737058	0.89[EUR][1000 genomes]
rs1737060	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1737065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737067	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1737068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737071	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737073	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1737081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1737087	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2735050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3117297	0.86[ASN][1000 genomes]
rs3117303	0.86[ASN][1000 genomes]
rs3129081	0.86[ASN][1000 genomes]
rs3129184	0.83[EUR][1000 genomes]
rs3130252	0.86[ASN][1000 genomes]
rs3131858	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3131862	0.86[ASN][1000 genomes]
rs3135050	0.86[ASN][1000 genomes]
rs6933762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909717	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs909726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs909735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9258243	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs932338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs932341	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs909725	HLA-H	cis	lymphoblastoid	seeQTL
rs909725	FKSG83	cis	parietal	SCAN
rs909725	ZKSCAN4	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29717800-29720400	Weak transcription	Fetal Heart	heart
2	chr6:29717800-29721200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:29719200-29721200	Active TSS	GM12878-XiMat	blood
4	chr6:29719400-29721200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:29719400-29721200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:29719600-29720400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr6:29719600-29721000	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr6:29719600-29721200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr6:29719600-29721200	Active TSS	NHLF	lung
10	chr6:29719600-29721400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:29719600-29721400	Active TSS	HSMM	muscle
12	chr6:29719600-29721400	Active TSS	NHDF-Ad	bronchial
13	chr6:29719600-29721800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:29719800-29720400	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr6:29719800-29720400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr6:29719800-29720400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr6:29719800-29720400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:29719800-29720400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr6:29719800-29720400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:29719800-29720400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:29719800-29720400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr6:29719800-29720400	Flanking Active TSS	NHEK	skin
23	chr6:29719800-29720600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:29719800-29720600	Active TSS	Esophagus	oesophagus
25	chr6:29719800-29721000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr6:29719800-29721000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:29719800-29721000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:29719800-29721000	Active TSS	Aorta	Aorta
29	chr6:29719800-29721200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:29719800-29721200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:29719800-29721200	Active TSS	Colonic Mucosa	Colon
32	chr6:29719800-29721200	Active TSS	Fetal Lung	lung
33	chr6:29719800-29721200	Active TSS	Psoas Muscle	Psoas
34	chr6:29719800-29721400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:29719800-29721600	Active TSS	Brain Cingulate Gyrus	brain
36	chr6:29719800-29721600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:29719800-29721600	Active TSS	HSMMtube	muscle
38	chr6:29720000-29720400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:29720000-29720400	Active TSS	Primary T cells from cord blood	blood
40	chr6:29720000-29720400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr6:29720000-29720400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:29720000-29720400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:29720000-29720400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:29720000-29720400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr6:29720000-29720400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:29720000-29720600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:29720000-29720600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:29720000-29720600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr6:29720000-29720600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
50	chr6:29720000-29720800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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