Variant report

Variant	rs8100599
Chromosome Location	chr19:21265462-21265463
allele	A/C
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	YY1	chr19:21264825-21265483	GM12891	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
2	POLR2A	chr19:21264677-21265587	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr19:21264914-21265464	K562	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
4	YY1	chr19:21264709-21265467	HepG2	liver:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
5	MAX	chr19:21264741-21265643	Hela-S3	cervix:	n/a	n/a
6	SIN3A	chr19:21264665-21265474	H1-hESC	embryonic stem cell:	n/a	chr19:21265022-21265031
7	TAF1	chr19:21264743-21265486	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:21264728-21265681	Hela-S3	cervix:	n/a	n/a
9	YY1	chr19:21264763-21265535	SK-N-SH_RA	brain:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
10	POLR2A	chr19:21264723-21265514	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:21264676-21265636	Hela-S3	cervix:	n/a	n/a
12	RFX5	chr19:21264665-21265667	Hela-S3	cervix:	n/a	chr19:21264920-21264929 chr19:21264859-21264868 chr19:21264856-21264871
13	POLR2A	chr19:21264762-21265493	K562	blood:	n/a	n/a
14	RCOR1	chr19:21264773-21265635	K562	blood:	n/a	n/a
15	POLR2A	chr19:21264657-21265672	GM12891	blood:	n/a	n/a
16	SPI1	chr19:21265353-21265645	HL-60	blood:	n/a	n/a
17	POLR2A	chr19:21264774-21265547	GM18505	blood:	n/a	n/a
18	POLR2A	chr19:21264688-21265473	GM12891	blood:	n/a	n/a
19	MAX	chr19:21264675-21265482	K562	blood:	n/a	n/a
20	TAF1	chr19:21264741-21265484	K562	blood:	n/a	n/a
21	MXI1	chr19:21264687-21265634	Hela-S3	cervix:	n/a	n/a
22	YY1	chr19:21264750-21265530	K562	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
23	RFX5	chr19:21264301-21265937	SK-N-SH	brain:	n/a	chr19:21264920-21264929 chr19:21264859-21264868 chr19:21264856-21264871
24	YY1	chr19:21264837-21265545	GM12878	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
25	YY1	chr19:21264759-21265637	H1-hESC	embryonic stem cell:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
26	POLR2A	chr19:21264713-21265473	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:21264555-21265654	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr19:21264872-21265479	GM12892	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
29	YY1	chr19:21264827-21265500	ECC-1	luminal epithelium:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
30	YY1	chr19:21264869-21265508	NT2-D1	testis:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
31	POLR2A	chr19:21264695-21265493	HepG2	liver:	n/a	n/a
32	HCFC1	chr19:21264603-21265546	Hela-S3	cervix:	n/a	n/a
33	SPI1	chr19:21265012-21265694	GM12891	blood:	n/a	chr19:21265181-21265194 chr19:21265205-21265218
34	YY1	chr19:21265014-21265519	GM12878	blood:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
35	HMGN3	chr19:21264933-21265518	K562	blood:	n/a	n/a
36	POLR2A	chr19:21264716-21265578	GM19099	blood:	n/a	n/a
37	TAF1	chr19:21264658-21265475	ECC-1	luminal epithelium:	n/a	n/a
38	SPI1	chr19:21265423-21265593	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:21264705-21265558	GM15510	blood:	n/a	n/a
40	TAF7	chr19:21264695-21265498	H1-hESC	embryonic stem cell:	n/a	n/a
41	MXI1	chr19:21264617-21265852	IMR90	lung:	n/a	n/a
42	POLR2A	chr19:21264807-21265565	IMR90	lung:	n/a	n/a
43	TAF1	chr19:21264712-21265583	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr19:21264693-21265545	SK-N-SH_RA	brain:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
45	YY1	chr19:21264811-21265717	SK-N-SH	brain:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329
46	POLR2A	chr19:21265446-21265478	Gliobla	brain:	n/a	n/a
47	POLR2A	chr19:21264701-21265535	GM19193	blood:	n/a	n/a
48	MXI1	chr19:21264424-21265910	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr19:21264702-21265494	H1-neurons	neurons:	n/a	n/a
50	YY1	chr19:21264907-21265515	HepG2	liver:	n/a	chr19:21265300-21265322 chr19:21265313-21265321 chr19:21265320-21265334 chr19:21265312-21265322 chr19:21265318-21265329

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21265421-21265471	HRCEpiC	kidney:	n/a
2	chr19:21265421-21265471	AG04449	skin:	fetal
3	chr19:21265421-21265471	NHBE	bronchial:	n/a
4	chr19:21265421-21265471	HCPEpiC	choroid plexus:	n/a
5	chr19:21265421-21265471	H1-hESC	embryonic stem cell:	embryo
6	chr19:21265421-21265471	IMR90	lung:	fetal
7	chr19:21265421-21265471	AG10803	skin:	n/a
8	chr19:21265421-21265471	ovcar-3	ovarian:	n/a
9	chr19:21265421-21265471	HCF	heart:	n/a
10	chr19:21265421-21265471	K562	blood:	n/a
11	chr19:21265421-21265471	SAEC	small airway:	n/a
12	chr19:21265421-21265471	HIPEpiC	eye:	n/a
13	chr19:21265421-21265471	CMK	blood:	n/a
14	chr19:21265421-21265471	HNPCEpiC	eye:	n/a
15	chr19:21265421-21265471	GM12891	blood:	n/a
16	chr19:21265421-21265471	GM06990	blood:	n/a
17	chr19:21265421-21265471	HepG2	liver:	n/a
18	chr19:21265421-21265471	AoSMC	blood vessel:	n/a
19	chr19:21265421-21265471	SK-N-SH_RA	brain:	n/a
20	chr19:21265421-21265471	MCF-7	breast:	n/a
21	chr19:21265421-21265471	HUVEC	blood vessel:	n/a
22	chr19:21265421-21265471	HEEpiC	esophagus:	n/a
23	chr19:21265421-21265471	AG09319	gingival:	n/a
24	chr19:21265421-21265471	HL-60	blood:	n/a
25	chr19:21265421-21265471	T-47D	breast:	n/a
26	chr19:21265421-21265471	SK-N-MC	brain:	n/a
27	chr19:21265421-21265471	HRE	kidney:	n/a
28	chr19:21265421-21265471	AG09309	skin:	n/a
29	chr19:21265421-21265471	Jurkat	blood:	n/a
30	chr19:21265421-21265471	NB4	blood:	n/a
31	chr19:21265421-21265471	HEK293	kidney:	embryo
32	chr19:21265421-21265471	NH-A	brain:	n/a
33	chr19:21265421-21265471	LNCaP	prostate:	n/a
34	chr19:21265421-21265471	GM19239	blood:	n/a
35	chr19:21265421-21265471	GM12878	blood:	n/a
36	chr19:21265421-21265471	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:21265421-21265471	GM12892	blood:	n/a
38	chr19:21265421-21265471	ProgFib	skin:	n/a
39	chr19:21265421-21265471	HCT-116	colon:	n/a
40	chr19:21265421-21265471	SK-N-SH	brain:	n/a
41	chr19:21265421-21265471	RPTEC	kidney:	n/a
42	chr19:21265421-21265471	ECC-1	luminal epithelium:	n/a
43	chr19:21265421-21265471	A549	lung:	n/a
44	chr19:21265421-21265471	Hela-S3	cervix:	n/a
45	chr19:21265421-21265471	MCF10A-Er-Src	breast:	n/a
46	chr19:21265421-21265471	HRPEpiC	eye:	n/a
47	chr19:21265421-21265471	Caco-2	colon:	n/a
48	chr19:21265421-21265471	HMEC	breast:	n/a
49	chr19:21265421-21265471	Hepatocyte	liver:	n/a
50	chr19:21265421-21265471	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:21238270..21239771-chr19:21264302..21266943,2	K562	blood:
2	chr19:21246343..21248444-chr19:21263959..21266875,2	K562	blood:
3	chr17:57969004..57971186-chr19:21264179..21266125,2	MCF-7	breast:
4	chr19:21203269..21205162-chr19:21263863..21266449,2	MCF-7	breast:

Variant related genes	Relation type
ZNF714	TF binding region
ZNF714	CpG island
ENSG00000108423	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000118620	Chromatin interaction
ENSG00000265650	Chromatin interaction
ENSG00000268598	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10164375	0.98[ASN][1000 genomes]
rs10401931	1.00[ASN][1000 genomes]
rs10403266	0.88[ASN][1000 genomes]
rs10405180	0.91[ASN][1000 genomes]
rs10405218	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10405406	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10406661	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409844	0.97[ASN][1000 genomes]
rs10409877	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10410901	0.97[ASN][1000 genomes]
rs10411038	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10412267	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412509	0.80[ASN][1000 genomes]
rs10412688	0.83[ASN][1000 genomes]
rs10413175	1.00[ASN][1000 genomes]
rs10413692	0.83[ASN][1000 genomes]
rs10413983	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414134	1.00[ASN][1000 genomes]
rs10417165	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10418706	0.92[EUR][1000 genomes]
rs10421819	0.98[ASN][1000 genomes]
rs10422193	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10423541	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10424283	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10425969	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10454116	0.84[ASN][1000 genomes]
rs11085424	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11085431	0.91[ASN][1000 genomes]
rs11666640	0.97[ASN][1000 genomes]
rs11666869	0.88[ASN][1000 genomes]
rs11667674	0.88[ASN][1000 genomes]
rs11668795	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11668952	0.88[ASN][1000 genomes]
rs11668985	0.86[ASN][1000 genomes]
rs11669248	0.84[ASN][1000 genomes]
rs11670162	1.00[ASN][1000 genomes]
rs11671397	0.88[ASN][1000 genomes]
rs11671894	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11672142	0.97[ASN][1000 genomes]
rs11672727	0.88[ASN][1000 genomes]
rs11672747	0.88[ASN][1000 genomes]
rs11878599	0.88[ASN][1000 genomes]
rs12104220	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12104387	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12608706	0.85[ASN][1000 genomes]
rs12609005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12609167	0.91[ASN][1000 genomes]
rs12609427	0.84[ASN][1000 genomes]
rs12609510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12609831	0.85[ASN][1000 genomes]
rs12611115	0.83[ASN][1000 genomes]
rs12973640	1.00[ASN][1000 genomes]
rs12973921	0.88[ASN][1000 genomes]
rs12974016	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12975789	0.85[ASN][1000 genomes]
rs12976796	0.80[ASN][1000 genomes]
rs12981855	0.98[ASN][1000 genomes]
rs1470021	0.94[ASN][1000 genomes]
rs1470022	0.94[ASN][1000 genomes]
rs1609441	1.00[ASN][1000 genomes]
rs1968523	1.00[ASN][1000 genomes]
rs2013048	1.00[ASN][1000 genomes]
rs2081050	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2081052	0.84[AMR][1000 genomes]
rs2081057	0.92[EUR][1000 genomes]
rs2082003	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2098681	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2099648	0.96[EUR][1000 genomes]
rs2115493	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2115494	0.88[ASN][1000 genomes]
rs2115495	0.88[ASN][1000 genomes]
rs2164987	0.80[AMR][1000 genomes]
rs2164988	0.92[ASN][1000 genomes]
rs2164989	0.97[ASN][1000 genomes]
rs2195453	0.88[ASN][1000 genomes]
rs2195454	0.88[ASN][1000 genomes]
rs2358792	0.83[ASN][1000 genomes]
rs2358795	0.85[ASN][1000 genomes]
rs2358803	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358804	0.88[ASN][1000 genomes]
rs2884548	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2884554	0.91[ASN][1000 genomes]
rs35137761	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4255903	0.85[EUR][1000 genomes]
rs4292035	0.82[ASN][1000 genomes]
rs4365405	0.83[ASN][1000 genomes]
rs4488591	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808275	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4808276	0.88[ASN][1000 genomes]
rs4809119	0.94[ASN][1000 genomes]
rs4809122	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511181	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511184	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511185	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6511186	1.00[ASN][1000 genomes]
rs6511187	0.94[ASN][1000 genomes]
rs6511188	1.00[ASN][1000 genomes]
rs6511190	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511191	0.97[ASN][1000 genomes]
rs6511192	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511194	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511195	0.97[ASN][1000 genomes]
rs6511196	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511198	0.88[ASN][1000 genomes]
rs6511199	0.88[ASN][1000 genomes]
rs6511200	0.88[ASN][1000 genomes]
rs6511201	0.88[ASN][1000 genomes]
rs7246723	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247413	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7247553	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7248087	0.83[ASN][1000 genomes]
rs7248410	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7249283	0.97[ASN][1000 genomes]
rs7249736	1.00[ASN][1000 genomes]
rs7250169	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252277	0.85[ASN][1000 genomes]
rs7253530	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7253950	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7254047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254053	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7254722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7254982	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257481	1.00[ASN][1000 genomes]
rs7258195	1.00[ASN][1000 genomes]
rs7258409	1.00[ASN][1000 genomes]
rs7258477	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7260268	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260600	1.00[ASN][1000 genomes]
rs7343175	0.88[ASN][1000 genomes]
rs741674	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs741676	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8100289	0.91[ASN][1000 genomes]
rs8101222	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8101412	1.00[ASN][1000 genomes]
rs8101461	0.91[ASN][1000 genomes]
rs8102966	0.96[EUR][1000 genomes]
rs8103696	0.85[ASN][1000 genomes]
rs8103825	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8106801	1.00[ASN][1000 genomes]
rs8106923	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8107638	0.97[ASN][1000 genomes]
rs8107982	0.97[ASN][1000 genomes]
rs8109549	0.86[ASN][1000 genomes]
rs8111827	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112054	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8112216	0.97[ASN][1000 genomes]
rs8112500	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8182465	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9304980	0.97[ASN][1000 genomes]
rs9304981	0.80[ASN][1000 genomes]
rs9304982	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9941463	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9967619	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
2	chr19:21264600-21265800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr19:21264600-21265800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:21264600-21265800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:21264600-21266000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:21264600-21266000	Active TSS	Fetal Brain Female	brain
7	chr19:21264600-21266000	Active TSS	Fetal Intestine Small	intestine
8	chr19:21264600-21266200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:21264600-21266200	Active TSS	GM12878-XiMat	blood
10	chr19:21264800-21265600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:21264800-21265600	Active TSS	Primary T cells from cord blood	blood
12	chr19:21264800-21265600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:21264800-21265600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr19:21264800-21265600	Active TSS	Brain Angular Gyrus	brain
15	chr19:21264800-21265600	Active TSS	Brain Hippocampus Middle	brain
16	chr19:21264800-21265600	Active TSS	Colon Smooth Muscle	Colon
17	chr19:21264800-21265600	ZNF genes & repeats	Esophagus	oesophagus
18	chr19:21264800-21265600	Active TSS	Pancreas	Pancrea
19	chr19:21264800-21265600	Active TSS	Right Ventricle	heart
20	chr19:21264800-21265600	Active TSS	HUVEC	blood vessel
21	chr19:21264800-21265800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:21264800-21265800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:21264800-21265800	Active TSS	Primary B cells from peripheral blood	blood
24	chr19:21264800-21265800	Active TSS	Primary T cells fromperipheralblood	blood
25	chr19:21264800-21265800	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr19:21264800-21265800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr19:21264800-21265800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:21264800-21265800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:21264800-21265800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:21264800-21265800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:21264800-21265800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr19:21264800-21265800	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr19:21264800-21265800	Active TSS	Adipose Nuclei	Adipose
34	chr19:21264800-21265800	ZNF genes & repeats	Liver	Liver
35	chr19:21264800-21265800	Active TSS	Brain Cingulate Gyrus	brain
36	chr19:21264800-21265800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:21264800-21265800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:21264800-21265800	Active TSS	Brain Substantia Nigra	brain
39	chr19:21264800-21265800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr19:21264800-21265800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr19:21264800-21265800	Active TSS	Fetal Muscle Trunk	muscle
42	chr19:21264800-21265800	Active TSS	Fetal Muscle Leg	muscle
43	chr19:21264800-21265800	Active TSS	Placenta	Placenta
44	chr19:21264800-21265800	Active TSS	Fetal Stomach	stomach
45	chr19:21264800-21265800	Active TSS	Fetal Thymus	thymus
46	chr19:21264800-21265800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr19:21264800-21265800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr19:21264800-21265800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:21264800-21265800	Active TSS	Stomach Smooth Muscle	stomach
50	chr19:21264800-21265800	Active TSS	Hela-S3	cervix

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