Variant report

Variant	rs2247510
Chromosome Location	chr3:50126215-50126216
allele	G/T
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	chr3:50126008-50128248	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:50126164-50127042	GM12878	blood:	n/a	n/a
3	YY1	chr3:50126086-50127195	GM12891	blood:	n/a	chr3:50126369-50126383 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
4	POLR2A	chr3:50126046-50127417	GM12891	blood:	n/a	n/a
5	SIX5	chr3:50126071-50126514	A549	lung:	n/a	n/a
6	REST	chr3:50126178-50126605	SK-N-SH	brain:	n/a	n/a
7	TBL1XR1	chr3:50126157-50126810	GM12878	blood:	n/a	n/a
8	TAF1	chr3:50126130-50126900	GM12892	blood:	n/a	n/a
9	YY1	chr3:50126174-50126997	K562	blood:	n/a	chr3:50126369-50126383 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
10	STAT3	chr3:50126196-50126433	MCF10A-Er-Src	breast:	n/a	chr3:50126256-50126276 chr3:50126260-50126271
11	MYC	chr3:50126187-50127141	MCF-7	breast:	n/a	chr3:50126883-50126893
12	BRCA1	chr3:50126105-50126680	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:50126039-50127221	GM19193	blood:	n/a	n/a
14	ATF2	chr3:50126134-50126573	GM12878	blood:	n/a	n/a
15	TAF1	chr3:50126088-50126589	K562	blood:	n/a	n/a
16	YY1	chr3:50126085-50127168	GM12878	blood:	n/a	chr3:50126369-50126383 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
17	POLR2A	chr3:50126022-50127065	Raji	blood:	n/a	n/a
18	YY1	chr3:50126160-50126968	GM12891	blood:	n/a	chr3:50126369-50126383 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126375-50126384
19	POLR2A	chr3:50126054-50126580	K562	blood:	n/a	n/a
20	RCOR1	chr3:50126017-50126324	K562	blood:	n/a	n/a
21	MXI1	chr3:50126128-50126985	HepG2	liver:	n/a	n/a
22	HEY1	chr3:50126129-50127210	K562	blood:	n/a	n/a
23	TAF1	chr3:50126036-50127167	ECC-1	luminal epithelium:	n/a	n/a
24	ARID3A	chr3:50125919-50126486	HepG2	liver:	n/a	n/a
25	YY1	chr3:50126031-50127205	H1-hESC	embryonic stem cell:	n/a	chr3:50126369-50126383 chr3:50127190-50127199 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
26	CBX3	chr3:50125780-50126506	K562	blood:	n/a	n/a
27	POLR2A	chr3:50126011-50126630	HepG2	liver:	n/a	n/a
28	POLR2A	chr3:50126063-50127312	GM18505	blood:	n/a	n/a
29	POLR2A	chr3:50126188-50126495	A549	lung:	n/a	n/a
30	E2F4	chr3:50126071-50126527	MCF10A-Er-Src	breast:	n/a	n/a
31	EP300	chr3:50126188-50126550	K562	blood:	n/a	n/a
32	POLR2A	chr3:50125946-50126736	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr3:50126144-50127281	K562	blood:	n/a	n/a
34	NFYA	chr3:50126200-50126468	K562	blood:	n/a	n/a
35	POLR2A	chr3:50126051-50126638	K562	blood:	n/a	n/a
36	CHD1	chr3:50126062-50127612	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:50126009-50126467	GM12878	blood:	n/a	n/a
38	YY1	chr3:50126125-50126732	A549	lung:	n/a	chr3:50126369-50126383 chr3:50126375-50126384
39	POLR2A	chr3:50126153-50127043	NB4	blood:	n/a	n/a
40	YY1	chr3:50126004-50127181	SK-N-SH_RA	brain:	n/a	chr3:50126369-50126383 chr3:50126949-50126957 chr3:50126901-50126915 chr3:50126945-50126965 chr3:50126948-50126970 chr3:50126375-50126384
41	POLR2A	chr3:50126107-50126723	HepG2	liver:	n/a	n/a
42	UBTF	chr3:50126084-50127180	K562	blood:	n/a	n/a
43	POLR2A	chr3:50126016-50126660	PANC-1	pancreas:	n/a	n/a
44	SIX5	chr3:50126132-50126453	GM12878	blood:	n/a	n/a
45	FOXA1	chr3:50126157-50126347	T-47D	breast:	n/a	n/a
46	POLR2A	chr3:50126095-50126865	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:50126031-50127433	GM12892	blood:	n/a	n/a
48	PML	chr3:50125858-50127482	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr3:50126079-50126663	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr3:50126162-50127138	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50126178-50126228	HepG2	liver:	n/a
2	chr3:50126178-50126228	AG09319	gingival:	n/a
3	chr3:50126178-50126228	NHDF-neo	bronchial:	n/a
4	chr3:50126178-50126228	PFSK-1	brain:	n/a
5	chr3:50126174-50126224	PrEC	prostate:	n/a
6	chr3:50126178-50126228	K562	blood:	n/a
7	chr3:50126178-50126228	ProgFib	skin:	n/a
8	chr3:50126174-50126224	GM12891	blood:	n/a
9	chr3:50126174-50126224	HMEC	breast:	n/a
10	chr3:50126174-50126224	ECC-1	luminal epithelium:	n/a
11	chr3:50126178-50126228	ECC-1	luminal epithelium:	n/a
12	chr3:50126174-50126224	AG04449	skin:	fetal
13	chr3:50126174-50126224	HEK293	kidney:	embryo
14	chr3:50126178-50126228	GM12891	blood:	n/a
15	chr3:50126174-50126224	HNPCEpiC	eye:	n/a
16	chr3:50126174-50126224	IMR90	lung:	fetal
17	chr3:50126174-50126224	GM12878	blood:	n/a
18	chr3:50126178-50126228	Hela-S3	cervix:	n/a
19	chr3:50126174-50126224	SK-N-SH_RA	brain:	n/a
20	chr3:50126178-50126228	T-47D	breast:	n/a
21	chr3:50126174-50126224	HCF	heart:	n/a
22	chr3:50126174-50126224	MCF-7	breast:	n/a
23	chr3:50126174-50126224	HepG2	liver:	n/a
24	chr3:50126174-50126224	PANC-1	pancreas:	n/a
25	chr3:50126174-50126224	NT2-D1	testis:	n/a
26	chr3:50126178-50126228	A549	lung:	n/a
27	chr3:50126178-50126228	MCF-7	breast:	n/a
28	chr3:50126174-50126224	HAEpiC	amniotic membrane:	n/a
29	chr3:50126174-50126224	BJ	skin:	n/a
30	chr3:50126178-50126228	AG09309	skin:	n/a
31	chr3:50126174-50126224	CMK	blood:	n/a
32	chr3:50126174-50126224	SKMC	muscle:	n/a
33	chr3:50126174-50126224	H1-hESC	embryonic stem cell:	embryo
34	chr3:50126174-50126224	SK-N-MC	brain:	n/a
35	chr3:50126178-50126228	ovcar-3	ovarian:	n/a
36	chr3:50126178-50126228	U87	brain:	n/a
37	chr3:50126178-50126228	HAEpiC	amniotic membrane:	n/a
38	chr3:50126174-50126224	HRPEpiC	eye:	n/a
39	chr3:50126174-50126224	NH-A	brain:	n/a
40	chr3:50126178-50126228	AoSMC	blood vessel:	n/a
41	chr3:50126174-50126224	MCF10A-Er-Src	breast:	n/a
42	chr3:50126178-50126228	HRCEpiC	kidney:	n/a
43	chr3:50126178-50126228	HRE	kidney:	n/a
44	chr3:50126174-50126224	RPTEC	kidney:	n/a
45	chr3:50126178-50126228	HEEpiC	esophagus:	n/a
46	chr3:50126174-50126224	T-47D	breast:	n/a
47	chr3:50126174-50126224	Jurkat	blood:	n/a
48	chr3:50126178-50126228	AG10803	skin:	n/a
49	chr3:50126178-50126228	GM12892	blood:	n/a
50	chr3:50126174-50126224	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr3:50125762..50129022-chr3:50137938..50141076,4	K562	blood:
2	chr3:50126080..50126817-chr3:197025051..197025628,2	Hela-S3	cervix:
3	chr3:50125097..50128236-chr3:50128554..50131975,3	MCF-7	breast:
4	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:
5	chr3:49966031..49968659-chr3:50125180..50127794,3	K562	blood:
6	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
7	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:

Variant related genes	Relation type
RBM5	TF binding region
RBM5	CpG island
ENSG00000004534	Chromatin interaction
ENSG00000075711	Chromatin interaction
ENSG00000227375	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000003756	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10049087	0.81[JPT][hapmap]
rs1046956	0.86[YRI][hapmap]
rs1061474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130228	0.81[JPT][hapmap]
rs11130233	0.89[JPT][hapmap]
rs1138536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709573	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs12107768	0.92[ASN][1000 genomes]
rs12496973	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs12632110	0.88[YRI][hapmap]
rs12634780	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12637671	0.88[YRI][hapmap]
rs13060128	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs13067082	0.88[YRI][hapmap]
rs13082703	0.81[ASN][1000 genomes]
rs17657664	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.81[ASN][1000 genomes]
rs17657688	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2013208	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2230590	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2240326	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2240327	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2240328	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2240329	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2252833	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2280406	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2352969	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2352984	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap]
rs2353579	0.82[JPT][hapmap]
rs2526747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2526748	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2526749	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2526750	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526751	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2526754	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2624815	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2624817	0.95[ASN][1000 genomes]
rs2624819	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs2624821	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2624822	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2624826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2624829	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2624832	0.81[ASN][1000 genomes]
rs2624834	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2624843	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2624847	0.82[JPT][hapmap]
rs2624848	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2624853	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2681776	0.81[ASN][1000 genomes]
rs2681779	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2856234	0.90[CHD][hapmap]
rs2856237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2856238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2883057	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs34312088	0.81[ASN][1000 genomes]
rs3774733	0.82[JPT][hapmap]
rs3774734	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3774759	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs4688688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4688689	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs4688690	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs4688753	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688754	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688755	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs4688758	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6446192	0.84[ASN][1000 genomes]
rs6446193	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6446194	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6446195	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446197	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6762477	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6765484	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6771546	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6772095	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6774354	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap]
rs6792892	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6793528	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6799579	0.92[ASN][1000 genomes]
rs6808044	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7430334	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7613875	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7615206	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs7621026	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7621352	0.82[JPT][hapmap]
rs7627864	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7628058	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7634441	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7648174	0.81[ASN][1000 genomes]
rs868891	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs9311446	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9682295	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9814664	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9844201	0.83[ASN][1000 genomes]
rs9861216	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9866695	0.90[CHD][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv822080	chr3:50120789-50126278	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv822081	chr3:50120963-50127117	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv822083	chr3:50123733-50126381	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs2247510	RBM6	cis	Nerve Tibial	GTEx
rs2247510	RBM6	cis	Heart Left Ventricle	GTEx
rs2247510	RBM6	cis	Artery Aorta	GTEx
rs2247510	ARIH2	cis	cerebellum	SCAN
rs2247510	HYAL3	cis	multi-tissue	Pritchard
rs2247510	RBM6	cis	Esophagus Muscularis	GTEx
rs2247510	RBM6	cis	Artery Tibial	GTEx
rs2247510	RBM6	cis	lung	GTEx
rs2247510	RBM6	cis	Esophagus Mucosa	GTEx
rs2247510	RNF123	cis	parietal	SCAN
rs2247510	RBM6	cis	cerebellum	SCAN
rs2247510	RBM6	cis	Thyroid	GTEx
rs2247510	RBM6	cis	parietal	SCAN
rs2247510	QRICH1	cis	cerebellum	SCAN
rs2247510	RBM6	cis	multi-tissue	Pritchard
rs2247510	RBM6	cis	Whole Blood	GTEx
rs2247510	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs2247510	RBM6	cis	lymphoblastoid	seeQTL
rs2247510	RBM6	cis	Adipose Subcutaneous	GTEx
rs2247510	RNF123	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50115600-50126400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:50125800-50126400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:50125800-50126400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:50125800-50126600	Active TSS	Brain Germinal Matrix	brain
5	chr3:50125800-50126800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr3:50125800-50127400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:50125800-50127600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:50125800-50127600	Active TSS	Brain Substantia Nigra	brain
9	chr3:50125800-50127600	Active TSS	Colonic Mucosa	Colon
10	chr3:50125800-50127600	Active TSS	Colon Smooth Muscle	Colon
11	chr3:50125800-50127600	Active TSS	Esophagus	oesophagus
12	chr3:50125800-50127600	Active TSS	Rectal Smooth Muscle	rectum
13	chr3:50125800-50127600	Active TSS	Osteobl	bone
14	chr3:50125800-50127800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:50125800-50127800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:50125800-50127800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:50125800-50127800	Active TSS	Fetal Brain Female	brain
18	chr3:50125800-50127800	Active TSS	HSMM	muscle
19	chr3:50125800-50128000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:50125800-50128200	Active TSS	Psoas Muscle	Psoas
21	chr3:50126000-50126400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr3:50126000-50126400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:50126000-50126400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:50126000-50126400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:50126000-50126400	Weak transcription	Gastric	stomach
26	chr3:50126000-50126600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:50126000-50127400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:50126000-50127400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr3:50126000-50127400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:50126000-50127400	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr3:50126000-50127400	Active TSS	Adipose Nuclei	Adipose
32	chr3:50126000-50127400	Active TSS	Placenta Amnion	Placenta Amnion
33	chr3:50126000-50127400	Active TSS	Thymus	Thymus
34	chr3:50126000-50127400	Bivalent/Poised TSS	HepG2	liver
35	chr3:50126000-50127600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr3:50126000-50127600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr3:50126000-50127600	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr3:50126000-50127600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr3:50126000-50127600	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr3:50126000-50127600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:50126000-50127600	Active TSS	Brain Angular Gyrus	brain
42	chr3:50126000-50127600	Active TSS	Brain Cingulate Gyrus	brain
43	chr3:50126000-50127600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr3:50126000-50127600	Active TSS	Fetal Intestine Large	intestine
45	chr3:50126000-50127600	Active TSS	Fetal Intestine Small	intestine
46	chr3:50126000-50127600	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr3:50126000-50127600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr3:50126000-50127600	Active TSS	Stomach Smooth Muscle	stomach
49	chr3:50126000-50127800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr3:50126000-50127800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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