Variant report

Variant	rs7017010
Chromosome Location	chr8:120808571-120808572
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10086913	0.83[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs10087974	0.89[YRI][hapmap]
rs10088232	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10095282	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10096486	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096846	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10101278	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10103886	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10108071	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10109513	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109718	0.86[ASN][1000 genomes]
rs10109808	0.84[ASN][1000 genomes]
rs10109901	0.86[ASN][1000 genomes]
rs10109951	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10110061	0.87[ASN][1000 genomes]
rs10110601	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10113252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10113562	0.88[ASN][1000 genomes]
rs10505374	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1055130	0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1055131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1055133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155707	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12542706	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12543087	0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12545479	0.84[ASN][1000 genomes]
rs12707876	0.81[ASN][1000 genomes]
rs12707880	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs13257002	0.82[ASN][1000 genomes]
rs13258336	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261032	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs13262434	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs13268676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270831	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs13272214	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs14027	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1433951	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1433952	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1509348	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1567358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1567359	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs16893071	0.81[ASN][1000 genomes]
rs16893077	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs16893101	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs16893104	0.82[ASN][1000 genomes]
rs16893109	0.83[ASN][1000 genomes]
rs16893113	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs16893140	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1828238	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1960439	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1976575	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2043430	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2043431	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2048239	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2063282	0.84[ASN][1000 genomes]
rs2136374	0.83[ASN][1000 genomes]
rs2136375	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2289011	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2326377	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2326378	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2634	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs28421406	0.82[ASN][1000 genomes]
rs28486048	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28576821	0.82[ASN][1000 genomes]
rs28665481	0.82[ASN][1000 genomes]
rs28715681	0.88[ASN][1000 genomes]
rs28736344	0.82[ASN][1000 genomes]
rs28756749	0.88[ASN][1000 genomes]
rs34718068	0.86[ASN][1000 genomes]
rs35019302	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35103910	0.87[ASN][1000 genomes]
rs35148850	0.82[ASN][1000 genomes]
rs35954443	0.84[ASN][1000 genomes]
rs3812463	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4380974	0.84[ASN][1000 genomes]
rs4870931	0.80[ASN][1000 genomes]
rs4870955	0.86[ASN][1000 genomes]
rs4870956	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871577	0.82[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871578	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4871595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871597	0.88[ASN][1000 genomes]
rs4871599	0.86[ASN][1000 genomes]
rs4871629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871634	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871640	0.86[ASN][1000 genomes]
rs4871642	0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4871648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871660	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62526565	0.83[ASN][1000 genomes]
rs6469846	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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469849	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6469852	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6469853	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs67905698	0.87[ASN][1000 genomes]
rs6983932	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6989559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6989791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6992109	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6994604	0.82[ASN][1000 genomes]
rs6996250	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6999808	0.90[YRI][hapmap]
rs7003687	0.89[YRI][hapmap]
rs7009073	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7011974	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7012857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015793	0.81[ASN][1000 genomes]
rs7017045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017279	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7813438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813651	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7813680	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7815389	0.89[YRI][hapmap]
rs7821501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7825803	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7827482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7827811	0.90[YRI][hapmap]
rs7829198	0.87[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs7832755	0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7833112	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7833490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833706	0.85[ASN][1000 genomes]
rs7837213	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7837589	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7839110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843304	0.85[ASN][1000 genomes]
rs9297604	0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9297605	0.87[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs9693207	0.87[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:120781000-120813800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:120781200-120812800	Weak transcription	Colonic Mucosa	Colon
6	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120781400-120812800	Weak transcription	Right Ventricle	heart
8	chr8:120781400-120813800	Weak transcription	Aorta	Aorta
9	chr8:120781600-120812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:120785200-120812000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:120785200-120812600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:120785600-120810600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:120785800-120808800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:120785800-120810400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:120786600-120810000	Strong transcription	Fetal Thymus	thymus
17	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
18	chr8:120792400-120812600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:120793400-120814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:120794800-120810800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:120795800-120812800	Weak transcription	HSMMtube	muscle
22	chr8:120797200-120812800	Weak transcription	Brain Germinal Matrix	brain
23	chr8:120798600-120811000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:120800400-120810000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:120800400-120810200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:120800400-120810200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:120800400-120810400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:120800400-120810800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:120800400-120810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:120800400-120810800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:120800400-120812800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:120800600-120810000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:120800600-120810200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:120800600-120810200	Strong transcription	HSMM	muscle
36	chr8:120800600-120810600	Strong transcription	HUVEC	blood vessel
37	chr8:120800600-120811000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:120800800-120810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:120801600-120812800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:120801800-120809800	Weak transcription	K562	blood
41	chr8:120801800-120830400	Weak transcription	NHEK	skin
42	chr8:120802400-120810000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
44	chr8:120802800-120812800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:120803200-120812800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:120803200-120812800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr8:120803200-120812800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:120803400-120813600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:120804400-120808600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr8:120804400-120808600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links