Variant report

Variant	rs11986004
Chromosome Location	chr8:62548905-62548906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:62547600-62549045	U87	brain:	n/a	n/a
2	POLR2A	chr8:62548703-62550673	U87	brain:	n/a	n/a
3	POLR2A	chr8:62547600-62549204	U87	brain:	n/a	n/a
4	STAT1	chr8:62548739-62549069	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62540233..62544861-chr8:62545183..62549142,5	K562	blood:

Variant related genes	Relation type
RN7SKP97	TF binding region
ENSG00000222898	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10090651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098691	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10099866	0.93[EUR][1000 genomes]
rs10111006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11992990	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255699	0.91[EUR][1000 genomes]
rs16927652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16927767	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17205360	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17793991	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1878411	0.82[ASN][1000 genomes]
rs2350917	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2350925	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes]
rs2882536	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35337652	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35550451	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35683980	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4272369	0.85[CEU][hapmap];0.89[YRI][hapmap]
rs4354302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4377960	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs4446731	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4515541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4633055	0.94[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6471968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6549	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67189750	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984286	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6985520	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6990099	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[EUR][1000 genomes]
rs7009611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015043	0.82[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7813834	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830237	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840731	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
4	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
7	chr8:62519600-62549000	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:62523400-62549000	Weak transcription	Colonic Mucosa	Colon
9	chr8:62526400-62552200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:62526600-62549000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:62528000-62549800	Weak transcription	Brain Angular Gyrus	brain
12	chr8:62530000-62552600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:62530200-62550000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:62532000-62558800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:62532200-62555600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr8:62532600-62565600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:62534400-62561000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:62534800-62556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:62534800-62564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:62534800-62564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:62535400-62558400	Weak transcription	Aorta	Aorta
23	chr8:62535400-62566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:62536200-62564800	Strong transcription	NH-A	brain
25	chr8:62536400-62562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:62536600-62556600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:62536800-62552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:62536800-62558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:62537000-62552800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:62537200-62549600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:62537200-62561000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:62538000-62552400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:62538200-62553400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:62538600-62550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:62538800-62554600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:62539800-62559600	Genic enhancers	A549	lung
37	chr8:62540000-62550000	Weak transcription	Fetal Brain Female	brain
38	chr8:62540000-62554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:62540200-62561000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:62540400-62554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:62540400-62562200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:62540600-62566000	Strong transcription	Osteobl	bone
43	chr8:62541000-62552800	Weak transcription	Fetal Kidney	kidney
44	chr8:62541000-62557600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:62541000-62563800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:62541200-62549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:62541400-62549000	Weak transcription	Fetal Stomach	stomach
48	chr8:62541400-62552400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:62541400-62553000	Weak transcription	K562	blood
50	chr8:62541600-62549200	Weak transcription	Brain Inferior Temporal Lobe	brain

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