Variant report

Variant	rs8111313
Chromosome Location	chr19:21776847-21776848
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr19:21775937-21777361	K562	blood:	n/a	n/a
2	STAT5A	chr19:21776618-21777209	K562	blood:	n/a	n/a
3	TBP	chr19:21776811-21776941	K562	blood:	n/a	n/a
4	RCOR1	chr19:21775283-21777389	K562	blood:	n/a	n/a
5	POLR2A	chr19:21776752-21777135	HL-60	blood:	n/a	n/a
6	HEY1	chr19:21776541-21776875	K562	blood:	n/a	n/a
7	CEBPB	chr19:21776753-21777706	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr19:21775575-21777375	K562	blood:	n/a	n/a
9	JUND	chr19:21775737-21777346	K562	blood:	n/a	n/a
10	TAL1	chr19:21776627-21777250	K562	blood:	n/a	n/a
11	UBTF	chr19:21776808-21776940	K562	blood:	n/a	n/a
12	ATF3	chr19:21776694-21777184	K562	blood:	n/a	n/a
13	POLR2A	chr19:21776732-21777048	K562	blood:	n/a	n/a
14	ZNF143	chr19:21775674-21777160	K562	blood:	n/a	n/a
15	ARID3A	chr19:21776657-21777194	K562	blood:	n/a	n/a
16	ZMIZ1	chr19:21776592-21777210	K562	blood:	n/a	n/a
17	MAFF	chr19:21776670-21777106	K562	blood:	n/a	n/a
18	STAT5A	chr19:21776555-21777061	K562	blood:	n/a	n/a
19	CEBPB	chr19:21776767-21777855	HepG2	liver:	n/a	n/a
20	NR2F2	chr19:21776634-21777318	K562	blood:	n/a	n/a
21	CEBPD	chr19:21776717-21777326	K562	blood:	n/a	n/a
22	TEAD4	chr19:21775765-21777292	K562	blood:	n/a	n/a
23	TRIM28	chr19:21776532-21777208	K562	blood:	n/a	n/a
24	MYC	chr19:21776668-21777738	NB4	blood:	n/a	n/a
25	CCNT2	chr19:21776451-21777013	K562	blood:	n/a	n/a
26	EGR1	chr19:21776714-21776998	K562	blood:	n/a	n/a
27	TEAD4	chr19:21776569-21777226	K562	blood:	n/a	n/a
28	GATA1	chr19:21776636-21777575	PBDE	blood:	n/a	n/a
29	NR2F2	chr19:21776555-21777258	K562	blood:	n/a	n/a
30	MAX	chr19:21776728-21777307	K562	blood:	n/a	n/a
31	ATF1	chr19:21775871-21777447	K562	blood:	n/a	n/a
32	CEBPD	chr19:21776575-21777326	K562	blood:	n/a	n/a
33	TBL1XR1	chr19:21776766-21777129	K562	blood:	n/a	n/a
34	CBX3	chr19:21776630-21777275	K562	blood:	n/a	n/a
35	EP300	chr19:21776683-21777200	K562	blood:	n/a	n/a
36	CEBPB	chr19:21776721-21777179	MCF-7	breast:	n/a	n/a
37	CEBPB	chr19:21776819-21777845	A549	lung:	n/a	n/a
38	GATA2	chr19:21776697-21777113	K562	blood:	n/a	n/a
39	RCOR1	chr19:21775940-21777199	K562	blood:	n/a	n/a
40	MYC	chr19:21775734-21777260	K562	blood:	n/a	n/a
41	CEBPB	chr19:21776674-21777255	K562	blood:	n/a	n/a
42	EP300	chr19:21775773-21777330	K562	blood:	n/a	n/a
43	CEBPB	chr19:21776570-21777936	K562	blood:	n/a	n/a
44	EGR1	chr19:21776700-21776958	K562	blood:	n/a	n/a
45	MAFK	chr19:21775798-21777301	K562	blood:	n/a	n/a
46	BHLHE40	chr19:21775428-21777483	K562	blood:	n/a	n/a
47	TBL1XR1	chr19:21775811-21777238	K562	blood:	n/a	n/a
48	CEBPB	chr19:21776793-21777722	IMR90	lung:	n/a	n/a
49	MAX	chr19:21776691-21777633	NB4	blood:	n/a	n/a
50	CEBPB	chr19:21776359-21777781	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000268240	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 43 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10854054	0.85[ASN][1000 genomes]
rs11085469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667151	0.89[ASN][1000 genomes]
rs11673280	0.82[ASN][1000 genomes]
rs11879044	0.96[ASN][1000 genomes]
rs11881160	0.83[ASN][1000 genomes]
rs11881176	0.83[ASN][1000 genomes]
rs11881813	0.81[ASN][1000 genomes]
rs12150968	0.82[ASN][1000 genomes]
rs12327638	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs12459011	0.82[ASN][1000 genomes]
rs12459715	0.87[ASN][1000 genomes]
rs12463384	0.82[ASN][1000 genomes]
rs12608625	0.95[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12610221	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12972148	0.96[ASN][1000 genomes]
rs12973203	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12973209	0.87[ASN][1000 genomes]
rs12974817	0.96[ASN][1000 genomes]
rs12978060	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs12979255	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12981277	0.89[ASN][1000 genomes]
rs1520068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1520069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1520070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533674	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850937	0.87[ASN][1000 genomes]
rs2102920	0.96[ASN][1000 genomes]
rs2102922	0.87[ASN][1000 genomes]
rs2139530	0.87[ASN][1000 genomes]
rs2359157	0.87[ASN][1000 genomes]
rs34692125	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34835488	0.96[ASN][1000 genomes]
rs35092215	0.85[ASN][1000 genomes]
rs35229762	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35465051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35998933	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435389	0.81[ASN][1000 genomes]
rs4809140	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4809141	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4809146	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4809147	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4809148	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4809151	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4809152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4809153	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4809154	0.82[ASN][1000 genomes]
rs55778393	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57229007	0.86[ASN][1000 genomes]
rs59054166	0.96[ASN][1000 genomes]
rs59803919	0.82[ASN][1000 genomes]
rs61137407	0.86[ASN][1000 genomes]
rs61461318	0.82[ASN][1000 genomes]
rs62108370	0.81[ASN][1000 genomes]
rs62108372	0.80[ASN][1000 genomes]
rs62110244	0.96[ASN][1000 genomes]
rs62110249	0.86[ASN][1000 genomes]
rs6511268	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs6511273	0.87[ASN][1000 genomes]
rs67854708	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67876192	0.81[EUR][1000 genomes]
rs68172713	0.85[AFR][1000 genomes]
rs71333832	0.82[ASN][1000 genomes]
rs7246154	0.87[ASN][1000 genomes]
rs7248367	0.87[ASN][1000 genomes]
rs7249639	0.81[ASN][1000 genomes]
rs7249775	0.82[ASN][1000 genomes]
rs7250457	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7250470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7250663	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7250960	0.89[ASN][1000 genomes]
rs7251076	0.82[ASN][1000 genomes]
rs7251111	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7252205	0.82[ASN][1000 genomes]
rs7252706	0.82[ASN][1000 genomes]
rs7254018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7254378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255395	0.82[ASN][1000 genomes]
rs7255521	0.81[ASN][1000 genomes]
rs7257246	0.87[ASN][1000 genomes]
rs7259763	0.82[ASN][1000 genomes]
rs7259888	0.82[ASN][1000 genomes]
rs7260391	0.81[ASN][1000 genomes]
rs7260514	0.87[ASN][1000 genomes]
rs8100536	0.80[ASN][1000 genomes]
rs8101255	0.82[ASN][1000 genomes]
rs8101857	0.81[ASN][1000 genomes]
rs8109757	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8110320	0.87[ASN][1000 genomes]
rs8111076	0.87[ASN][1000 genomes]
rs8112158	0.87[ASN][1000 genomes]
rs8112960	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9749033	0.87[ASN][1000 genomes]
rs9749043	0.87[ASN][1000 genomes]
rs9749067	0.87[ASN][1000 genomes]
rs9749163	0.87[ASN][1000 genomes]
rs9749167	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv960938	chr19:21766627-21785276	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:43)

SNP	Gene	Cis/trans	Tissue	Source
rs8111313	CTD-2561J22.5	cis	Esophagus Mucosa	GTEx
rs8111313	ZNF429	cis	Muscle Skeletal	GTEx
rs8111313	ZNF43	cis	Esophagus Mucosa	GTEx
rs8111313	ZNF429	cis	multi-tissue	Pritchard
rs8111313	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs8111313	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs8111313	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs8111313	ZNF429	cis	lung	GTEx
rs8111313	RP11-678G14.3	cis	Thyroid	GTEx
rs8111313	RP11-678G14.3	cis	Stomach	GTEx
rs8111313	ZNF708	cis	multi-tissue	Pritchard
rs8111313	LINC00664	cis	Muscle Skeletal	GTEx
rs8111313	ZNF493	cis	Whole Blood	GTEx
rs8111313	ZNF708	cis	Whole Blood	GTEx
rs8111313	CTD-2561J22.5	cis	lung	GTEx
rs8111313	ZNF429	cis	Esophagus Mucosa	GTEx
rs8111313	LINC00664	cis	lung	GTEx
rs8111313	RP11-678G14.3	cis	Whole Blood	GTEx
rs8111313	RP11-678G14.2	cis	Whole Blood	GTEx
rs8111313	ZNF100	cis	Muscle Skeletal	GTEx
rs8111313	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs8111313	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs8111313	CTD-2561J22.5	cis	Whole Blood	GTEx
rs8111313	LINC00664	cis	Whole Blood	GTEx
rs8111313	RP11-678G14.4	cis	Muscle Skeletal	GTEx
rs8111313	LINC00664	cis	Esophagus Mucosa	GTEx
rs8111313	RP11-678G14.3	cis	Esophagus Mucosa	GTEx
rs8111313	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs8111313	RP11-420K14.2	cis	Whole Blood	GTEx
rs8111313	RP11-678G14.3	cis	lung	GTEx
rs8111313	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs8111313	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs8111313	ZNF429	cis	Whole Blood	GTEx
rs8111313	ZNF493	cis	Esophagus Mucosa	GTEx
rs8111313	ZNF493	cis	multi-tissue	Pritchard
rs8111313	RP11-678G14.2	cis	Thyroid	GTEx
rs8111313	RP11-420K14.2	cis	lung	GTEx
rs8111313	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs8111313	ZNF429	cis	Artery Tibial	GTEx
rs8111313	ZNF429	cis	Skin Sun Exposed Lower leg	GTEx
rs8111313	RP11-678G14.2	cis	lung	GTEx
rs8111313	RP11-678G14.3	cis	Artery Aorta	GTEx
rs8111313	CTD-2561J22.5	cis	Thyroid	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21770000-21786600	Weak transcription	Primary T cells from cord blood	blood
2	chr19:21770200-21786600	Weak transcription	Right Ventricle	heart
3	chr19:21771000-21786200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:21771200-21786200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21771200-21786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:21771400-21782200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:21771400-21785000	Weak transcription	Fetal Intestine Small	intestine
8	chr19:21775400-21777600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:21775400-21779000	Enhancers	Pancreas	Pancrea
10	chr19:21775400-21779200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:21775600-21778000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:21775800-21777400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21776000-21779600	Weak transcription	Dnd41	blood
14	chr19:21776200-21777200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:21776400-21777200	Flanking Active TSS	K562	blood
16	chr19:21776400-21777600	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:21776800-21777000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:21776800-21777800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links