Variant report

Variant	rs3108191
Chromosome Location	chr19:37178529-37178530
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	USF1	chr19:37178182-37178660	A549	lung:	n/a	n/a
2	RCOR1	chr19:37178086-37178841	K562	blood:	n/a	n/a
3	POLR2A	chr19:37178090-37178744	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr19:37178106-37178705	HepG2	liver:	n/a	n/a
5	HA-E2F1	chr19:37178059-37179068	MCF-7	breast:	n/a	chr19:37178429-37178443 chr19:37178504-37178513 chr19:37178555-37178564
6	POLR2A	chr19:37178120-37178719	HCT-116	colon:	n/a	n/a
7	RUNX3	chr19:37177898-37178928	GM12878	blood:	n/a	n/a
8	YY1	chr19:37178171-37178548	HCT-116	colon:	n/a	n/a
9	REST	chr19:37178357-37179078	A549	lung:	n/a	chr19:37178536-37178549
10	MYC	chr19:37178387-37178530	HUVEC	blood vessel:	n/a	n/a
11	MYBL2	chr19:37177961-37178614	HepG2	liver:	n/a	n/a
12	TAF1	chr19:37177967-37178940	ECC-1	luminal epithelium:	n/a	n/a
13	SRF	chr19:37178155-37178653	ECC-1	luminal epithelium:	n/a	n/a
14	BHLHE40	chr19:37178057-37178751	GM12878	blood:	n/a	n/a
15	TCF7L2	chr19:37177911-37178911	Hela-S3	cervix:	n/a	chr19:37178359-37178368 chr19:37178357-37178371 chr19:37178358-37178368 chr19:37178356-37178370
16	POLR2A	chr19:37178104-37178699	HUVEC	blood vessel:	n/a	n/a
17	SIN3AK20	chr19:37178096-37178696	HepG2	liver:	n/a	n/a
18	ELF1	chr19:37178116-37178714	SK-N-SH	brain:	n/a	chr19:37178405-37178418
19	JUND	chr19:37177974-37178807	A549	lung:	n/a	chr19:37178606-37178615
20	GABPA	chr19:37178315-37178588	HepG2	liver:	n/a	chr19:37178503-37178512 chr19:37178503-37178517 chr19:37178500-37178514 chr19:37178505-37178514 chr19:37178503-37178514 chr19:37178555-37178564
21	SIN3A	chr19:37178011-37178891	GM12878	blood:	n/a	n/a
22	PAX5	chr19:37178235-37178587	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:37177666-37179223	SK-N-MC	brain:	n/a	n/a
24	MAX	chr19:37177857-37178947	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr19:37178017-37178945	ProgFib	skin:	n/a	n/a
26	ZNF143	chr19:37178142-37178736	GM12878	blood:	n/a	chr19:37178697-37178716 chr19:37178385-37178403 chr19:37178392-37178401 chr19:37178394-37178403 chr19:37178650-37178668
27	MYC	chr19:37177959-37178716	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:37177854-37178788	HepG2	liver:	n/a	n/a
29	ATF3	chr19:37178167-37179119	A549	lung:	n/a	n/a
30	TAF1	chr19:37178139-37178893	ECC-1	luminal epithelium:	n/a	n/a
31	IRF1	chr19:37178304-37178716	K562	blood:	n/a	n/a
32	E2F6	chr19:37178213-37178786	K562	blood:	n/a	chr19:37178429-37178443 chr19:37178504-37178513 chr19:37178555-37178564
33	TAF1	chr19:37178169-37178671	SK-N-SH	brain:	n/a	n/a
34	ELF1	chr19:37177798-37178728	A549	lung:	n/a	chr19:37178405-37178418
35	PML	chr19:37177913-37179316	GM12878	blood:	n/a	chr19:37178699-37178707
36	POLR2A	chr19:37177769-37178847	PANC-1	pancreas:	n/a	n/a
37	RUNX3	chr19:37178092-37178658	GM12878	blood:	n/a	n/a
38	SPI1	chr19:37178032-37178937	HL-60	blood:	n/a	n/a
39	ETS1	chr19:37177919-37178884	A549	lung:	n/a	chr19:37178392-37178405
40	ELF1	chr19:37178052-37178909	MCF-7	breast:	n/a	chr19:37178768-37178780 chr19:37178405-37178418
41	GTF2F1	chr19:37177921-37179096	Hela-S3	cervix:	n/a	n/a
42	ELF1	chr19:37177990-37178937	GM12878	blood:	n/a	chr19:37178768-37178780 chr19:37178405-37178418
43	FOXP2	chr19:37178245-37178644	SK-N-MC	brain:	n/a	n/a
44	RELA	chr19:37177901-37178967	GM15510	blood:	n/a	n/a
45	TAF1	chr19:37178232-37178745	H1-neurons	neurons:	n/a	n/a
46	MYC	chr19:37178413-37178584	Hela-S3	cervix:	n/a	n/a
47	TBP	chr19:37178181-37178718	K562	blood:	n/a	n/a
48	MXI1	chr19:37177951-37178906	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr19:37177987-37178726	HepG2	liver:	n/a	n/a
50	ETS1	chr19:37178119-37178661	GM12878	blood:	n/a	chr19:37178392-37178405

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37178489-37178539	HEK293	kidney:	embryo
2	chr19:37178489-37178539	A549	lung:	n/a
3	chr19:37178489-37178539	GM19239	blood:	n/a
4	chr19:37178489-37178539	NB4	blood:	n/a
5	chr19:37178489-37178539	Hela-S3	cervix:	n/a
6	chr19:37178489-37178539	GM06990	blood:	n/a
7	chr19:37178489-37178539	SK-N-MC	brain:	n/a
8	chr19:37178489-37178539	PrEC	prostate:	n/a
9	chr19:37178489-37178539	MCF10A-Er-Src	breast:	n/a
10	chr19:37178489-37178539	AG04449	skin:	fetal
11	chr19:37178489-37178539	NHBE	bronchial:	n/a
12	chr19:37178489-37178539	K562	blood:	n/a
13	chr19:37178489-37178539	IMR90	lung:	fetal
14	chr19:37178489-37178539	PANC-1	pancreas:	n/a
15	chr19:37178489-37178539	HRCEpiC	kidney:	n/a
16	chr19:37178489-37178539	AG09319	gingival:	n/a
17	chr19:37178489-37178539	BJ	skin:	n/a
18	chr19:37178489-37178539	GM12891	blood:	n/a
19	chr19:37178489-37178539	HIPEpiC	eye:	n/a
20	chr19:37178489-37178539	AG09309	skin:	n/a
21	chr19:37178489-37178539	HRE	kidney:	n/a
22	chr19:37178489-37178539	HUVEC	blood vessel:	n/a
23	chr19:37178489-37178539	Jurkat	blood:	n/a
24	chr19:37178489-37178539	Hepatocyte	liver:	n/a
25	chr19:37178489-37178539	AG04450	lung:	fetal
26	chr19:37178489-37178539	LNCaP	prostate:	n/a
27	chr19:37178489-37178539	U87	brain:	n/a
28	chr19:37178489-37178539	NH-A	brain:	n/a
29	chr19:37178489-37178539	AoSMC	blood vessel:	n/a
30	chr19:37178489-37178539	GM12878	blood:	n/a
31	chr19:37178489-37178539	AG10803	skin:	n/a
32	chr19:37178489-37178539	BE2_C	brain:	n/a
33	chr19:37178489-37178539	HMEC	breast:	n/a
34	chr19:37178489-37178539	HL-60	blood:	n/a
35	chr19:37178489-37178539	RPTEC	kidney:	n/a
36	chr19:37178489-37178539	MCF-7	breast:	n/a
37	chr19:37178489-37178539	HEEpiC	esophagus:	n/a
38	chr19:37178489-37178539	PFSK-1	brain:	n/a
39	chr19:37178489-37178539	GM12892	blood:	n/a
40	chr19:37178489-37178539	H1-hESC	embryonic stem cell:	embryo
41	chr19:37178489-37178539	HRPEpiC	eye:	n/a
42	chr19:37178489-37178539	HAEpiC	amniotic membrane:	n/a
43	chr19:37178489-37178539	ECC-1	luminal epithelium:	n/a
44	chr19:37178489-37178539	HCM	heart:	n/a
45	chr19:37178489-37178539	CMK	blood:	n/a
46	chr19:37178489-37178539	HCF	heart:	n/a
47	chr19:37178489-37178539	T-47D	breast:	n/a
48	chr19:37178489-37178539	HCT-116	colon:	n/a
49	chr19:37178489-37178539	SAEC	small airway:	n/a
50	chr19:37178489-37178539	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:37177766..37179816-chr19:37265277..37267800,2	MCF-7	breast:
2	chr19:37062686..37064573-chr19:37176993..37178796,2	MCF-7	breast:
3	chr19:37038036..37040830-chr19:37176881..37179372,3	MCF-7	breast:
4	chr19:16738748..16739541-chr19:37178086..37179072,2	Hela-S3	cervix:
5	chr19:37157483..37161085-chr19:37175435..37180024,4	MCF-7	breast:

Variant related genes	Relation type
ZNF567	TF binding region
ENSG00000225975	TF binding region
ENSG00000225975	CpG island
ZNF567	CpG island
ENSG00000141979	Chromatin interaction
ENSG00000197808	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000267353	Chromatin interaction
ENSG00000186020	Chromatin interaction
ENSG00000105085	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10402486	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10407386	0.95[EUR][1000 genomes]
rs10409630	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11084862	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12610353	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1830031	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033077	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2217081	0.82[EUR][1000 genomes]
rs2385642	0.92[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2385643	0.89[EUR][1000 genomes]
rs3096617	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs3096618	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs3096619	0.84[CHB][hapmap];0.88[EUR][1000 genomes]
rs3096622	0.89[EUR][1000 genomes]
rs3096623	0.89[EUR][1000 genomes]
rs3096627	0.89[EUR][1000 genomes]
rs3096628	0.89[EUR][1000 genomes]
rs3096630	0.89[EUR][1000 genomes]
rs3096631	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs3096632	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs3096633	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3096636	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3108166	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108167	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108168	0.91[EUR][1000 genomes]
rs3108171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs3108172	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108174	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108179	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108181	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108182	1.00[EUR][1000 genomes]
rs3108184	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108185	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108186	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108187	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108188	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108189	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108190	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108192	0.84[EUR][1000 genomes]
rs3108193	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108196	0.94[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3108197	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108201	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108203	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108205	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108206	0.86[EUR][1000 genomes]
rs3108208	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108209	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108214	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108215	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs3108542	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108544	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108545	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108546	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108549	0.94[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs3108550	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108552	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108555	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108559	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108560	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108562	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108563	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108564	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108565	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108566	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108567	0.88[EUR][1000 genomes]
rs3108568	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108570	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108572	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108575	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108576	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3108577	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108579	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108580	0.81[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs3108592	0.87[ASN][1000 genomes]
rs3108594	0.89[EUR][1000 genomes]
rs3108596	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs3108597	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs3108598	0.94[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs3108600	0.88[EUR][1000 genomes]
rs3108602	0.88[EUR][1000 genomes]
rs3108603	0.89[EUR][1000 genomes]
rs3108604	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108607	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108608	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3108609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108610	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3111541	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs3111542	0.82[EUR][1000 genomes]
rs3111547	0.89[EUR][1000 genomes]
rs3111549	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3111550	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34002069	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34395293	0.88[EUR][1000 genomes]
rs4507019	0.83[EUR][1000 genomes]
rs4572520	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4806336	0.89[EUR][1000 genomes]
rs7245414	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7248477	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7252957	0.94[EUR][1000 genomes]
rs7256786	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7259195	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7259256	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8105197	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3108191	ZNF567	Cis_1M	lymphoblastoid	RTeQTL
rs3108191	CAPN12	cis	cerebellum	SCAN
rs3108191	LOC390940	cis	parietal	SCAN
rs3108191	CEACAM19	cis	cerebellum	SCAN
rs3108191	AC074138.3	cis	Thyroid	GTEx
rs3108191	AC092295.7	cis	Esophagus Muscularis	GTEx
rs3108191	ZNF404	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37177000-37179400	Active TSS	HSMMtube	muscle
2	chr19:37177000-37179400	Active TSS	NHLF	lung
3	chr19:37177200-37179000	Active TSS	A549	lung
4	chr19:37177200-37179200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:37177200-37179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:37177200-37179400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr19:37177200-37179600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:37177200-37180000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:37177200-37180200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:37177400-37179000	Active TSS	Ovary	ovary
11	chr19:37177400-37179200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:37177400-37179200	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:37177400-37179400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:37177400-37179400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:37177400-37179400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:37177400-37179400	Active TSS	Fetal Intestine Large	intestine
17	chr19:37177400-37179400	Active TSS	GM12878-XiMat	blood
18	chr19:37177400-37179600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr19:37177400-37180000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:37177400-37180000	Active TSS	HSMM	muscle
21	chr19:37177600-37178800	Active TSS	Brain Angular Gyrus	brain
22	chr19:37177600-37179000	Active TSS	Brain Anterior Caudate	brain
23	chr19:37177600-37179000	Active TSS	Fetal Kidney	kidney
24	chr19:37177600-37179000	Active TSS	Gastric	stomach
25	chr19:37177600-37179000	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr19:37177600-37179000	Active TSS	NHDF-Ad	bronchial
27	chr19:37177600-37179200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr19:37177600-37179200	Bivalent/Poised TSS	HepG2	liver
29	chr19:37177600-37179400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr19:37177600-37179400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:37177600-37179400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:37177600-37179400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:37177600-37179400	Active TSS	K562	blood
34	chr19:37177600-37179600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:37177600-37179600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:37177800-37178800	Active TSS	Fetal Muscle Leg	muscle
37	chr19:37177800-37179000	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:37177800-37179000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:37177800-37179000	Active TSS	Aorta	Aorta
40	chr19:37177800-37179000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr19:37177800-37179000	Active TSS	Fetal Thymus	thymus
42	chr19:37177800-37179200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr19:37177800-37179200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:37177800-37179200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:37177800-37179200	Active TSS	Esophagus	oesophagus
46	chr19:37177800-37179200	Active TSS	Small Intestine	intestine
47	chr19:37177800-37179400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:37177800-37179400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr19:37177800-37179600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:37177800-37179600	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links