Variant report

Variant	rs7005873
Chromosome Location	chr8:61748893-61748894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61589810..61591548-chr8:61747428..61749862,2	K562	blood:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10103011	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109193	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10448027	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10808712	0.89[CHB][hapmap]
rs10808713	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap]
rs10957156	0.89[CHB][hapmap]
rs10957158	0.82[EUR][1000 genomes]
rs10957161	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10957162	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985638	1.00[CHB][hapmap]
rs11986059	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986742	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11988338	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11989183	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11991467	0.82[EUR][1000 genomes]
rs11992809	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap]
rs11993896	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12544305	0.89[CHB][hapmap];0.81[CHD][hapmap];0.80[TSI][hapmap]
rs13255519	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap]
rs13277976	0.82[EUR][1000 genomes]
rs1384688	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2035456	0.86[CHB][hapmap]
rs2054666	0.82[EUR][1000 genomes]
rs2054667	0.82[EUR][1000 genomes]
rs2128713	0.89[CHB][hapmap]
rs2326598	0.81[EUR][1000 genomes]
rs4237037	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4237038	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4289855	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4301480	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4307377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387010	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4391471	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4392940	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4416857	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4449834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4500113	0.82[EUR][1000 genomes]
rs4507803	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4526395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540437	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4562360	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4581092	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4737563	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4737565	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4738815	0.89[CHB][hapmap]
rs4738818	0.89[CHB][hapmap]
rs4738821	0.81[EUR][1000 genomes]
rs4738822	0.82[EUR][1000 genomes]
rs4738824	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4738827	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4738831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4738832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6471894	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs6471896	0.89[CHB][hapmap];0.81[CHD][hapmap];0.80[TSI][hapmap]
rs6471898	1.00[CHB][hapmap]
rs6471901	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6471902	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471903	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6982898	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6996597	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996775	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6997208	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997222	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000766	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap]
rs7000957	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7002806	0.82[EUR][1000 genomes]
rs7009754	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7011972	0.89[CHB][hapmap];0.81[CHD][hapmap]
rs7016832	0.93[ASN][1000 genomes]
rs7017676	0.82[EUR][1000 genomes]
rs730085	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs7816621	0.89[CHB][hapmap]
rs7823484	0.81[EUR][1000 genomes]
rs7826035	0.89[CHB][hapmap]
rs7834977	0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836586	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[TSI][hapmap]
rs7840098	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7842389	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs7842498	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs7844586	0.84[EUR][1000 genomes]
rs7844902	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs900502	0.89[CHB][hapmap]
rs9298042	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9643371	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
2	chr8:61718200-61749400	Weak transcription	Fetal Kidney	kidney
3	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:61720800-61752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:61726800-61749600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:61728200-61749000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:61728800-61749400	Weak transcription	Small Intestine	intestine
8	chr8:61729200-61751600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:61731800-61751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:61732000-61752000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:61733200-61750800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:61736400-61752600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:61737800-61760800	Weak transcription	Stomach Mucosa	stomach
14	chr8:61739400-61755400	Weak transcription	Esophagus	oesophagus
15	chr8:61740400-61780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:61740600-61765000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:61741000-61750800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:61741200-61750000	Weak transcription	Brain Angular Gyrus	brain
19	chr8:61741200-61760200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr8:61741200-61763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:61741200-61770600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:61741400-61751800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:61741400-61752600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:61741400-61761800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:61741400-61762200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:61741400-61764600	Weak transcription	Osteobl	bone
27	chr8:61741600-61762400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:61741800-61751200	Strong transcription	Primary T cells from cord blood	blood
29	chr8:61741800-61777600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:61741800-61780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:61742000-61750800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:61742200-61778800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:61742800-61751200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:61743000-61757400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:61743200-61750000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:61743400-61749400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:61743400-61750800	Weak transcription	Aorta	Aorta
38	chr8:61743400-61753600	Weak transcription	Spleen	Spleen
39	chr8:61743400-61777400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:61743600-61749400	Weak transcription	HUVEC	blood vessel
41	chr8:61743600-61750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:61743800-61749400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:61743800-61752600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:61744200-61750000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:61744200-61750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:61744200-61755400	Weak transcription	Pancreas	Pancrea
47	chr8:61744400-61749400	Weak transcription	Colonic Mucosa	Colon
48	chr8:61744400-61750600	Weak transcription	Right Ventricle	heart
49	chr8:61744400-61754000	Weak transcription	Gastric	stomach
50	chr8:61744600-61749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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