Variant report

Variant	rs62386612
Chromosome Location	chr6:4871736-4871737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2179269	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610972	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62384662	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62384663	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62384665	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62386571	0.86[ASN][1000 genomes]
rs62386575	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62386578	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62386582	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386584	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386585	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386587	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386590	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386591	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386593	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386594	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386614	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918626	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6924037	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs808593	0.87[EUR][1000 genomes]
rs808598	0.87[EUR][1000 genomes]
rs808600	0.89[EUR][1000 genomes]
rs808606	0.87[EUR][1000 genomes]
rs808607	0.87[EUR][1000 genomes]
rs808608	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs808635	0.87[EUR][1000 genomes]
rs9378917	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9378919	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9392640	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9405786	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]

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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
2	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:4859000-4876600	Weak transcription	Ovary	ovary
5	chr6:4861800-4872000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:4862400-4872000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:4865600-4875000	Weak transcription	Aorta	Aorta
8	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:4866600-4880200	Weak transcription	HSMM	muscle
10	chr6:4868600-4880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:4870400-4873000	Enhancers	GM12878-XiMat	blood
13	chr6:4870600-4871800	Enhancers	HUVEC	blood vessel
14	chr6:4870800-4872000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:4870800-4872000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:4870800-4872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:4870800-4872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:4870800-4872400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:4870800-4874200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:4871000-4871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:4871000-4872400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:4871000-4872600	Enhancers	HMEC	breast
23	chr6:4871000-4876600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:4871200-4872000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:4871200-4872200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:4871200-4872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:4871200-4872400	Enhancers	K562	blood
28	chr6:4871400-4871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:4871400-4872400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:4871400-4872400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:4871400-4872400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr6:4871400-4872800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:4871400-4872800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:4871400-4872800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:4871400-4873000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:4871400-4873400	Enhancers	A549	lung
37	chr6:4871400-4875400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:4871400-4892000	Weak transcription	NHEK	skin
40	chr6:4871600-4872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:4871600-4872000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr6:4871600-4872200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:4871600-4872200	Enhancers	NHDF-Ad	bronchial
44	chr6:4871600-4872400	Enhancers	Primary B cells from peripheral blood	blood
45	chr6:4871600-4872400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:4871600-4872600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:4871600-4872800	Weak transcription	Hela-S3	cervix
48	chr6:4871600-4875800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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