Variant report

Variant	rs4925119
Chromosome Location	chr17:17742904-17742905
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	RCOR1	chr17:17742637-17744584	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:17742689-17743820	GM12878	blood:	n/a	n/a
3	EP300	chr17:17742519-17744243	ECC-1	luminal epithelium:	n/a	chr17:17743601-17743610
4	POU2F2	chr17:17742774-17743237	GM12891	blood:	n/a	chr17:17742778-17742791 chr17:17742778-17742791
5	CEBPB	chr17:17742751-17742915	K562	blood:	n/a	n/a
6	MAX	chr17:17742625-17744072	HepG2	liver:	n/a	chr17:17742960-17742969
7	POLR2A	chr17:17742584-17743932	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr17:17742741-17744758	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr17:17742600-17744794	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr17:17742483-17744566	K562	blood:	n/a	n/a
11	CHD2	chr17:17742712-17744633	Hela-S3	cervix:	n/a	n/a
12	HEY1	chr17:17742703-17743962	K562	blood:	n/a	chr17:17743428-17743443 chr17:17743788-17743803
13	POLR2A	chr17:17742860-17744475	GM19193	blood:	n/a	n/a
14	POLR2A	chr17:17742870-17744048	HL-60	blood:	n/a	n/a
15	TCF12	chr17:17742723-17743942	A549	lung:	n/a	chr17:17743669-17743676 chr17:17743676-17743684
16	POLR2A	chr17:17742498-17744736	MCF10A-Er-Src	breast:	n/a	n/a
17	SIX5	chr17:17742448-17743929	A549	lung:	n/a	n/a
18	POLR2A	chr17:17742673-17744614	H1-hESC	embryonic stem cell:	n/a	n/a
19	ARID3A	chr17:17742540-17743455	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:17742263-17744054	K562	blood:	n/a	n/a
21	MBD4	chr17:17742767-17743209	HepG2	liver:	n/a	n/a
22	POLR2A	chr17:17742552-17744012	HepG2	liver:	n/a	n/a
23	POLR2A	chr17:17742583-17743995	K562	blood:	n/a	n/a
24	PML	chr17:17742864-17743918	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:17742392-17745250	HepG2	liver:	n/a	n/a
26	POLR2A	chr17:17742699-17744031	GM12892	blood:	n/a	n/a
27	FOXA1	chr17:17742581-17742959	HepG2	liver:	n/a	chr17:17742776-17742788
28	POLR2A	chr17:17742569-17743915	PANC-1	pancreas:	n/a	n/a
29	TFAP2C	chr17:17742810-17745422	Hela-S3	cervix:	n/a	chr17:17745180-17745195
30	POLR2A	chr17:17742487-17744813	K562	blood:	n/a	n/a
31	SREBP2	chr17:17742514-17744556	GM12878	blood:	n/a	n/a
32	POU2F2	chr17:17742785-17743865	GM12878	blood:	n/a	chr17:17743627-17743639
33	JUN	chr17:17742288-17745278	K562	blood:	n/a	chr17:17744936-17744947 chr17:17744409-17744420 chr17:17744410-17744419
34	POLR2A	chr17:17742656-17744744	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr17:17742437-17743973	K562	blood:	n/a	n/a
36	MYBL2	chr17:17742649-17743912	HepG2	liver:	n/a	n/a
37	E2F6	chr17:17742846-17744084	A549	lung:	n/a	chr17:17743601-17743610 chr17:17743632-17743641
38	SIN3AK20	chr17:17742823-17744640	MCF-7	breast:	n/a	n/a
39	POLR2A	chr17:17742902-17743496	GM12891	blood:	n/a	n/a
40	SP1	chr17:17742539-17744521	A549	lung:	n/a	chr17:17744207-17744216 chr17:17744209-17744222
41	MAZ	chr17:17742765-17743976	K562	blood:	n/a	chr17:17742960-17742969
42	POLR2A	chr17:17742673-17744858	U87	brain:	n/a	n/a
43	POLR2A	chr17:17742389-17744775	Raji	blood:	n/a	n/a
44	POLR2A	chr17:17742764-17743813	GM12891	blood:	n/a	n/a
45	FOXA2	chr17:17742622-17742930	HepG2	liver:	n/a	chr17:17742776-17742788
46	POLR2A	chr17:17742539-17743857	K562	blood:	n/a	n/a
47	TEAD4	chr17:17742628-17743020	K562	blood:	n/a	n/a
48	POLR2A	chr17:17742764-17743985	GM12878	blood:	n/a	n/a
49	POLR2A	chr17:17742315-17744057	HCT-116	colon:	n/a	n/a
50	POLR2A	chr17:17742542-17744055	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17630393..17635386-chr17:17740565..17747416,7	MCF-7	breast:
2	chr17:17742240..17744264-chr17:17791340..17793757,2	MCF-7	breast:
3	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
4	chr17:17742084..17742993-chr3:88107991..88108537,2	Hela-S3	cervix:
5	chr17:17615835..17618255-chr17:17741726..17743796,2	K562	blood:
6	chr17:17741927..17743549-chr17:17824784..17826455,2	MCF-7	breast:
7	chr17:17589077..17591460-chr17:17741926..17746377,4	MCF-7	breast:
8	chr12:57038481..57041021-chr17:17741070..17743316,2	K562	blood:
9	chr17:17742750..17744659-chr17:17821292..17823063,2	K562	blood:
10	chr17:17742769..17743609-chr2:122288082..122288748,2	HCT-116	colon:
11	chr17:17583946..17588364-chr17:17740477..17744360,6	MCF-7	breast:
12	chr17:17741798..17744569-chr17:17877349..17878945,2	K562	blood:
13	chr17:17741535..17743958-chr17:17764231..17767571,3	K562	blood:
14	chr17:17741084..17743223-chr17:17876153..17877806,2	MCF-7	breast:
15	chr17:17596357..17599284-chr17:17741696..17744327,3	MCF-7	breast:
16	chr17:17576538..17579075-chr17:17742745..17745690,2	K562	blood:
17	chr17:17742275..17745067-chr17:17764534..17767182,3	MCF-7	breast:
18	chr12:50135359..50136000-chr17:17742784..17743749,2	Hela-S3	cervix:
19	chr17:17672192..17674299-chr17:17741443..17743483,2	K562	blood:
20	chr15:101459148..101459862-chr17:17742416..17743107,2	Hela-S3	cervix:
21	chr17:17622624..17624957-chr17:17740328..17743276,2	K562	blood:

Variant related genes	Relation type
SREBF1	TF binding region
ENSG00000264229	Chromatin interaction
ENSG00000154237	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000223979	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000237328	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000171962	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000259583	Chromatin interaction
ENSG00000229729	Chromatin interaction
ENSG00000163320	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10048206	0.90[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs1052299	0.91[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11078399	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11078400	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078403	0.81[AMR][1000 genomes]
rs11078406	0.90[GIH][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.80[AMR][1000 genomes]
rs11078408	0.81[GIH][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap]
rs1108646	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1108648	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11650649	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs11652144	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11652881	0.95[CEU][hapmap];0.84[MEX][hapmap]
rs11654081	0.84[CEU][hapmap]
rs11656665	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11657074	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11657130	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11657423	0.95[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11658309	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11868035	0.82[JPT][hapmap]
rs11870660	0.81[GIH][hapmap];0.88[MEX][hapmap]
rs12450799	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12936037	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12936927	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12938501	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12941039	0.81[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs12941550	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12946746	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12952723	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16960744	0.91[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1889018	0.95[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2236513	0.90[CEU][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2297508	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2350976	0.91[CEU][hapmap];0.84[MEX][hapmap]
rs2350977	0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs2955377	0.88[YRI][hapmap]
rs2955378	0.88[MEX][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap]
rs2955383	0.88[MEX][hapmap]
rs2955384	0.88[MEX][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap]
rs2955385	0.88[MEX][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap]
rs3183702	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35451946	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744113	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3744115	0.91[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3818717	0.81[CEU][hapmap]
rs4257260	0.90[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs4299203	0.81[GIH][hapmap];0.88[MEX][hapmap]
rs4341796	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs4368210	0.88[MEX][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap]
rs4459604	0.83[MEX][hapmap]
rs4470201	0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs4506969	0.89[YRI][hapmap]
rs4584886	0.87[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs4924821	0.81[EUR][1000 genomes]
rs4924822	0.86[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4924823	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924832	0.88[MEX][hapmap]
rs4925114	0.86[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs4925115	0.91[CEU][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs4925116	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4925117	0.80[AMR][1000 genomes]
rs4925120	0.91[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4925123	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs4925125	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4925126	0.90[GIH][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes]
rs4925129	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs4925130	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs5002487	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs58638639	0.82[EUR][1000 genomes]
rs6502618	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6502622	0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs6502624	0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs6502632	0.88[MEX][hapmap]
rs7207821	0.89[YRI][hapmap]
rs7212167	0.88[MEX][hapmap]
rs7213225	0.90[GIH][hapmap];0.96[MEX][hapmap]
rs7214002	0.92[YRI][hapmap]
rs7219320	0.88[MEX][hapmap]
rs7222480	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs7359509	0.95[CEU][hapmap];0.90[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7406982	0.88[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap]
rs7501812	0.86[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7503334	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs7503747	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8065416	0.90[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs8065563	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs8066560	0.95[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8066982	0.90[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs8067439	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs8068175	0.81[GIH][hapmap];0.84[MEX][hapmap]
rs8070128	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs8070748	0.90[GIH][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs8073001	0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs8078105	0.96[MEX][hapmap]
rs8078138	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs8078756	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8079321	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8080061	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8080823	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs950966	0.87[GIH][hapmap];0.87[MEX][hapmap]
rs9891957	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9893690	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9894257	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9895335	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9895750	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9896837	0.83[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs9899355	0.81[YRI][hapmap]
rs9899634	0.95[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9902941	0.95[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9906673	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9907246	0.81[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9907287	0.81[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9908017	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9908299	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9911281	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9912895	0.90[GIH][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs9913277	0.83[MEX][hapmap]
rs9915248	0.91[CEU][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9915776	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer 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 miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	77 gene(s)	inside rSNPs	diseases
12	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	77 gene(s)	inside rSNPs	diseases
14	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
17	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
18	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
19	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
21	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
22	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
23	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
24	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
25	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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	74 gene(s)	inside rSNPs	diseases
26	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
27	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
28	nsv907763	chr17:17673824-17749822	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
29	nsv907764	chr17:17673824-17754633	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
30	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
31	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
32	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
33	nsv907768	chr17:17709136-17747289	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4925119	SREBF1	cis	Whole Blood	GTEx
rs4925119	TOM1L2	cis	cerebellum	SCAN
rs4925119	TOM1L2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17740400-17743000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17740400-17743000	Enhancers	NHDF-Ad	bronchial
3	chr17:17740400-17743200	Weak transcription	Aorta	Aorta
4	chr17:17740600-17743000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:17740600-17743000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:17740600-17743000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:17740600-17743000	Enhancers	Brain Anterior Caudate	brain
8	chr17:17740600-17743000	Enhancers	Esophagus	oesophagus
9	chr17:17740600-17743000	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:17740600-17743000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr17:17740600-17743000	Enhancers	HUVEC	blood vessel
12	chr17:17740600-17743000	Enhancers	NHLF	lung
13	chr17:17740600-17743200	Enhancers	Lung	lung
14	chr17:17740600-17743200	Weak transcription	Ovary	ovary
15	chr17:17740600-17743400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:17740800-17743000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:17740800-17743000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:17740800-17743000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:17740800-17743000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr17:17740800-17743000	Enhancers	Primary B cells from peripheral blood	blood
21	chr17:17740800-17743000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr17:17740800-17743000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:17740800-17743000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:17740800-17743000	Enhancers	Brain Hippocampus Middle	brain
25	chr17:17740800-17743000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr17:17740800-17743000	Enhancers	Colon Smooth Muscle	Colon
27	chr17:17740800-17743000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr17:17740800-17743000	Enhancers	Fetal Muscle Leg	muscle
29	chr17:17740800-17743000	Enhancers	Placenta	Placenta
30	chr17:17740800-17743000	Enhancers	Stomach Mucosa	stomach
31	chr17:17740800-17743000	Enhancers	Thymus	Thymus
32	chr17:17740800-17743200	Enhancers	Primary B cells from cord blood	blood
33	chr17:17740800-17743200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr17:17741000-17743000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:17741000-17743000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:17741000-17743000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr17:17741000-17743000	Enhancers	Fetal Stomach	stomach
38	chr17:17741200-17743000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:17741200-17743000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:17741200-17743000	Enhancers	Colonic Mucosa	Colon
41	chr17:17741200-17743000	Enhancers	Osteobl	bone
42	chr17:17741400-17743000	Enhancers	HSMMtube	muscle
43	chr17:17741600-17743200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr17:17741600-17744000	Weak transcription	Gastric	stomach
45	chr17:17741800-17743000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr17:17741800-17743000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:17741800-17743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:17741800-17743000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr17:17741800-17743000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:17741800-17743000	Enhancers	Brain Substantia Nigra	brain

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