Variant report

Variant	rs3812133
Chromosome Location	chr6:86354411-86354412
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	chr6:86351174-86354473	GM12891	blood:	n/a	n/a
2	POLR2A	chr6:86354227-86354485	ProgFib	skin:	n/a	n/a
3	RCOR1	chr6:86352307-86354551	K562	blood:	n/a	n/a
4	MYC	chr6:86351154-86354425	A549	lung:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
5	RFX5	chr6:86352172-86354511	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:86351519-86354693	PANC-1	pancreas:	n/a	n/a
7	SIN3A	chr6:86351181-86354556	H1-hESC	embryonic stem cell:	n/a	chr6:86352350-86352363
8	POLR2A	chr6:86351241-86354579	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr6:86351736-86354794	PFSK-1	brain:	n/a	n/a
10	HCFC1	chr6:86350984-86354685	Hela-S3	cervix:	n/a	n/a
11	JUN	chr6:86352407-86354455	K562	blood:	n/a	chr6:86353255-86353264 chr6:86353377-86353386
12	MYC	chr6:86350655-86354442	MCF10A-Er-Src	breast:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
13	POLR2A	chr6:86350981-86354506	HUVEC	blood vessel:	n/a	n/a
14	MXI1	chr6:86350124-86354566	SK-N-SH	brain:	n/a	n/a
15	ARID3A	chr6:86353602-86354530	K562	blood:	n/a	chr6:86354216-86354232 chr6:86354217-86354233
16	POLR2A	chr6:86351131-86354524	HCT-116	colon:	n/a	n/a
17	EP300	chr6:86353572-86354440	GM12878	blood:	n/a	chr6:86353921-86353935
18	REST	chr6:86351120-86354451	H1-neurons	neurons:	n/a	chr6:86352441-86352454 chr6:86351919-86351932 chr6:86353547-86353560 chr6:86353444-86353464 chr6:86353524-86353542
19	MXI1	chr6:86351239-86354440	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:86353325-86354621	HUVEC	blood vessel:	n/a	n/a
21	IRF1	chr6:86352416-86354462	K562	blood:	n/a	chr6:86353899-86353910 chr6:86353897-86353910 chr6:86353591-86353605 chr6:86353898-86353909 chr6:86353896-86353910
22	ATF2	chr6:86353454-86354545	GM12878	blood:	n/a	n/a
23	MXI1	chr6:86350268-86354690	IMR90	lung:	n/a	n/a
24	REST	chr6:86353508-86354411	A549	lung:	n/a	chr6:86353547-86353560 chr6:86353524-86353542
25	GATA3	chr6:86354094-86354481	T-47D	breast:	n/a	n/a
26	EP300	chr6:86352423-86354429	K562	blood:	n/a	chr6:86353921-86353935 chr6:86353251-86353267
27	MYBL2	chr6:86353345-86354602	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:86351756-86354934	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:86354368-86354473	HUVEC	blood vessel:	n/a	n/a
30	CEBPB	chr6:86353423-86354558	GM12878	blood:	n/a	chr6:86353925-86353934 chr6:86353924-86353935 chr6:86353923-86353936 chr6:86353923-86353936 chr6:86353923-86353934
31	CEBPB	chr6:86352507-86354511	Hela-S3	cervix:	n/a	chr6:86353925-86353934 chr6:86353924-86353935 chr6:86353923-86353936 chr6:86353923-86353936 chr6:86353923-86353934
32	TEAD4	chr6:86353350-86354582	K562	blood:	n/a	n/a
33	POLR2A	chr6:86351196-86354574	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:86350510-86354740	SK-N-MC	brain:	n/a	n/a
35	RUNX3	chr6:86351514-86354593	GM12878	blood:	n/a	n/a
36	EP300	chr6:86353453-86354507	GM12878	blood:	n/a	chr6:86353921-86353935
37	POLR2A	chr6:86351309-86355183	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:86352101-86354458	HCT-116	colon:	n/a	n/a
39	TCF7L2	chr6:86352467-86354670	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr6:86352665-86354432	HCT-116	colon:	n/a	chr6:86353925-86353934 chr6:86353924-86353935 chr6:86353923-86353936 chr6:86353923-86353936 chr6:86353923-86353934
41	MYC	chr6:86351257-86354468	K562	blood:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
42	TBP	chr6:86353454-86354558	Hela-S3	cervix:	n/a	n/a
43	MYC	chr6:86351223-86354414	K562	blood:	n/a	chr6:86351734-86351745 chr6:86351735-86351744 chr6:86351733-86351746 chr6:86351734-86351745 chr6:86351735-86351742 chr6:86353234-86353244 chr6:86351734-86351745 chr6:86351733-86351746 chr6:86351731-86351746 chr6:86351735-86351745 chr6:86351735-86351745
44	CEBPB	chr6:86353524-86354418	K562	blood:	n/a	chr6:86353925-86353934 chr6:86353924-86353935 chr6:86353923-86353936 chr6:86353923-86353936 chr6:86353923-86353934
45	TCF7L2	chr6:86353511-86354437	PANC-1	pancreas:	n/a	n/a
46	KAP1	chr6:86353603-86354511	HEK293	kidney:	n/a	n/a
47	POLR2A	chr6:86351321-86354542	IMR90	lung:	n/a	n/a
48	POLR2A	chr6:86351149-86354512	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:86351532-86354704	PANC-1	pancreas:	n/a	n/a
50	HEY1	chr6:86354243-86354573	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:86353436..86354584-chr6:86387812..86388533,4	Hela-S3	cervix:
2	chr6:86338689..86357756-chr6:86378394..86390434,115	MCF-7	breast:
3	chr6:86320215..86324957-chr6:86350476..86355138,8	MCF-7	breast:
4	chr6:86299824..86305374-chr6:86350530..86356322,11	MCF-7	breast:
5	chr6:86352030..86354482-chr6:87864521..87866716,2	MCF-7	breast:
6	chr6:86300873..86305245-chr6:86347697..86356641,19	K562	blood:
7	chr6:86300457..86307827-chr6:86347697..86356337,20	K562	blood:
8	chr15:45670796..45672296-chr6:86353314..86354922,2	MCF-7	breast:
9	chr6:86301331..86304881-chr6:86350851..86355985,12	MCF-7	breast:
10	chr6:86288404..86291892-chr6:86352318..86354794,4	MCF-7	breast:
11	chr6:86350291..86355305-chr6:86366070..86378212,20	MCF-7	breast:
12	chr6:86262845..86265792-chr6:86354340..86355847,2	K562	blood:

Variant related genes	Relation type
SYNCRIP	TF binding region
ENSG00000188994	Chromatin interaction
ENSG00000271793	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000272008	Chromatin interaction
ENSG00000220563	Chromatin interaction
ENSG00000203875	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1059306	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10944133	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10944137	1.00[ASW][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap]
rs1173415	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1173417	0.82[EUR][1000 genomes]
rs11755642	0.84[MEX][hapmap];0.81[TSI][hapmap]
rs11758508	0.80[CHD][hapmap];0.83[TSI][hapmap]
rs12192546	0.84[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap]
rs12199873	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12205013	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12212480	1.00[ASW][hapmap];0.80[CHD][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs12212560	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs1335442	0.94[MKK][hapmap];0.83[TSI][hapmap]
rs1885607	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2065114	0.86[CHB][hapmap]
rs2229523	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2475790	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2475791	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2475792	0.82[CEU][hapmap]
rs2484355	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2758840	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2758842	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs2758843	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2758844	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2758845	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs2758846	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2758847	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2783171	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842601	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842602	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842603	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2842604	1.00[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842607	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2842608	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2842609	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2842612	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2842613	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2842614	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs2842617	0.82[EUR][1000 genomes]
rs4145082	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4235826	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4235827	0.84[ASN][1000 genomes]
rs4304137	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4351223	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4383777	0.87[EUR][1000 genomes]
rs4419647	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4441928	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4501401	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4579322	0.84[CHB][hapmap]
rs4706240	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4707207	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.97[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4707209	0.81[ASN][1000 genomes]
rs4707217	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6454471	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6454486	0.87[EUR][1000 genomes]
rs6454487	0.83[TSI][hapmap]
rs6909767	0.86[CEU][hapmap]
rs6922	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6926049	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6928448	1.00[ASW][hapmap]
rs6935918	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7452605	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7742201	0.95[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7742691	0.86[CEU][hapmap]
rs7746065	0.86[CHB][hapmap]
rs7752502	0.82[EUR][1000 genomes]
rs7757864	0.86[EUR][1000 genomes]
rs7762321	0.81[EUR][1000 genomes]
rs7768065	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs911927	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs9294337	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9342041	0.81[EUR][1000 genomes]
rs9342046	0.85[EUR][1000 genomes]
rs9344532	1.00[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9344533	0.86[CEU][hapmap]
rs9344542	0.82[CEU][hapmap]
rs9351065	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353318	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9353320	0.81[EUR][1000 genomes]
rs9353327	0.82[CEU][hapmap]
rs9362230	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9362233	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9362239	0.88[EUR][1000 genomes]
rs9444349	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9450284	0.82[CEU][hapmap]
rs9450290	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9450302	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs9450318	0.88[EUR][1000 genomes]
rs9450319	0.87[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	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv886334	chr6:86214507-86394403	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
4	esv3397854	chr6:86352258-86355106	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1028293	chr6:86353958-86778912	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
6	nsv538350	chr6:86353958-86778912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs3812133	SNHG5	cis	Esophagus Mucosa	GTEx
rs3812133	SNHG5	cis	Heart Left Ventricle	GTEx
rs3812133	SNHG5	cis	Nerve Tibial	GTEx
rs3812133	C6orf160	cis	uninvolved skin	skin_eQTL
rs3812133	C6orf160	cis	multi-tissue	Pritchard
rs3812133	SNHG5	cis	Whole Blood	GTEx
rs3812133	SNHG5	cis	Esophagus Muscularis	GTEx
rs3812133	SNHG5	cis	lung	GTEx
rs3812133	NT5E	cis	cerebellum	SCAN
rs3812133	SNHG5	cis	Thyroid	GTEx
rs3812133	SNHG5	cis	Muscle Skeletal	GTEx
rs3812133	C6orf160	cis	lesional skin	skin_eQTL
rs3812133	SNHG5	cis	Skin Sun Exposed Lower leg	GTEx
rs3812133	SNHG5	cis	Artery Tibial	GTEx
rs3812133	SNHG5	cis	multi-tissue	Pritchard
rs3812133	C6orf160	cis	normal skin	skin_eQTL
rs3812133	SNHG5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86349000-86354600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:86350400-86354600	Active TSS	Aorta	Aorta
3	chr6:86350400-86354600	Active TSS	Ovary	ovary
4	chr6:86350400-86354600	Active TSS	Right Ventricle	heart
5	chr6:86350400-86354800	Active TSS	Fetal Muscle Leg	muscle
6	chr6:86350400-86355200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:86350400-86355200	Active TSS	Psoas Muscle	Psoas
8	chr6:86350600-86355000	Active TSS	HSMMtube	muscle
9	chr6:86350600-86355200	Active TSS	Stomach Smooth Muscle	stomach
10	chr6:86350600-86355600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:86350800-86354600	Active TSS	Fetal Muscle Trunk	muscle
12	chr6:86350800-86354600	Active TSS	NHDF-Ad	bronchial
13	chr6:86350800-86355200	Active TSS	Colonic Mucosa	Colon
14	chr6:86350800-86355200	Active TSS	A549	lung
15	chr6:86351000-86354600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:86351000-86355000	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:86351200-86354600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:86351200-86354600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:86351200-86354600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:86351200-86354800	Active TSS	Pancreas	Pancrea
21	chr6:86351200-86355000	Active TSS	Colon Smooth Muscle	Colon
22	chr6:86351200-86355000	Active TSS	HSMM	muscle
23	chr6:86351200-86355400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:86351400-86354600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:86351400-86354600	Active TSS	Fetal Thymus	thymus
26	chr6:86351600-86355000	Active TSS	Placenta	Placenta
27	chr6:86352600-86354800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:86352600-86355000	Active TSS	HepG2	liver
29	chr6:86353000-86355000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr6:86353000-86355000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr6:86353000-86355200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr6:86353800-86354600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr6:86353800-86354600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:86353800-86354600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr6:86353800-86354600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:86353800-86354600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr6:86353800-86354600	Flanking Active TSS	Dnd41	blood
38	chr6:86353800-86355000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:86353800-86355200	Active TSS	Right Atrium	heart
40	chr6:86354000-86354600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:86354000-86354600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:86354000-86354600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr6:86354000-86354600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:86354000-86354600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:86354000-86354600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:86354000-86354600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:86354000-86354600	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr6:86354000-86354600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr6:86354000-86354600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr6:86354000-86354600	Flanking Active TSS	Stomach Mucosa	stomach

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