Variant report

Variant	rs10494582
Chromosome Location	chr1:185208761-185208762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185206677..185210985-chr1:185216927..185221202,5	K562	blood:
2	chr1:185207682..185209698-chr1:185270543..185272755,2	K562	blood:
3	chr1:185207872..185211038-chr1:185284175..185288135,4	K562	blood:
4	chr1:185208758..185211044-chr1:185542238..185543760,2	K562	blood:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000201421	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10489582	1.00[EUR][1000 genomes]
rs10798007	0.82[ASN][1000 genomes]
rs11804954	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12026308	1.00[EUR][1000 genomes]
rs12038977	1.00[EUR][1000 genomes]
rs12041641	1.00[EUR][1000 genomes]
rs12240005	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823862	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823869	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823875	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823884	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2025228	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2144664	1.00[EUR][1000 genomes]
rs3766713	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766716	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3895195	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41377350	1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs57266144	1.00[EUR][1000 genomes]
rs57927210	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57960155	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58031282	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58292874	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58685423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59035619	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59227355	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59611551	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59818790	1.00[EUR][1000 genomes]
rs60064915	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672580	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6687946	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6698620	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7515757	1.00[ASN][1000 genomes]
rs7516303	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540216	1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs7555243	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs953701	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs953702	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
3	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
4	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
6	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:185194000-185218600	Weak transcription	Lung	lung
15	chr1:185194200-185213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:185196600-185209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:185197200-185218200	Weak transcription	Left Ventricle	heart
18	chr1:185197600-185220400	Weak transcription	Ovary	ovary
19	chr1:185198800-185210400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:185199800-185213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:185202400-185218800	Weak transcription	Brain Anterior Caudate	brain
22	chr1:185206400-185218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:185207400-185210600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:185207600-185210400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:185207600-185211800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:185208000-185210200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:185208000-185211000	Enhancers	Primary T cells from cord blood	blood
28	chr1:185208200-185209000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:185208200-185211000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:185208200-185211000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:185208200-185211200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:185208400-185209400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:185208400-185210200	Weak transcription	K562	blood
34	chr1:185208400-185210600	Enhancers	Fetal Heart	heart
35	chr1:185208600-185208800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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