Variant report

Variant	rs10058636
Chromosome Location	chr5:52319056-52319057
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52318784..52321169-chr5:52323561..52325105,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10042752	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs10065796	1.00[JPT][hapmap]
rs10071255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10071580	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10073544	1.00[JPT][hapmap]
rs11948978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12523395	0.88[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap]
rs1421941	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16880636	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1862639	1.00[ASW][hapmap];0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3212402	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3212412	0.94[ASN][1000 genomes]
rs3212417	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3212627	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs55783963	0.94[ASN][1000 genomes]
rs66789666	0.81[EUR][1000 genomes]
rs67217308	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67835512	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6883028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9292002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9292003	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv880425	chr5:52291279-52345868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52303400-52320400	Weak transcription	Fetal Brain Male	brain
2	chr5:52307000-52333800	Weak transcription	Gastric	stomach
3	chr5:52313400-52319400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:52313600-52319800	Weak transcription	NH-A	brain
5	chr5:52313600-52321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:52313800-52319800	Weak transcription	Brain Angular Gyrus	brain
7	chr5:52313800-52320400	Weak transcription	Brain Anterior Caudate	brain
8	chr5:52313800-52323400	Weak transcription	Spleen	Spleen
9	chr5:52314200-52319600	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:52314200-52328600	Weak transcription	Lung	lung
11	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:52314400-52323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:52314400-52323400	Weak transcription	Fetal Intestine Small	intestine
14	chr5:52314400-52326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:52317200-52319400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:52317200-52327200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:52317400-52319200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:52317400-52319600	Enhancers	Duodenum Mucosa	Duodenum
19	chr5:52317400-52326800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:52317600-52326800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:52317600-52333600	Weak transcription	Colonic Mucosa	Colon
22	chr5:52317800-52321800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:52318400-52319200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:52318400-52319400	Enhancers	NHDF-Ad	bronchial
25	chr5:52318400-52321600	Enhancers	Hela-S3	cervix
26	chr5:52318400-52321800	Genic enhancers	NHEK	skin
27	chr5:52318400-52331800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:52318600-52319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:52318600-52322200	Enhancers	A549	lung
30	chr5:52318800-52319200	Enhancers	Fetal Intestine Large	intestine
31	chr5:52318800-52319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:52318800-52319600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:52318800-52319600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:52318800-52320000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:52318800-52320400	Enhancers	NHLF	lung
36	chr5:52318800-52320600	Enhancers	HUVEC	blood vessel
37	chr5:52318800-52321200	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:52318800-52321600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr5:52318800-52327200	Genic enhancers	HMEC	breast
40	chr5:52319000-52319200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:52319000-52319400	Weak transcription	Small Intestine	intestine
42	chr5:52319000-52319600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:52319000-52319600	Genic enhancers	HepG2	liver
44	chr5:52319000-52320600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:52319000-52320800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:52319000-52325400	Enhancers	Brain Substantia Nigra	brain

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