Variant report

Variant	rs808591
Chromosome Location	chr6:4871548-4871549
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4864258..4867257-chr6:4869047..4871548,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1091274	0.94[AFR][1000 genomes]
rs1265329	1.00[YRI][hapmap]
rs1265331	1.00[YRI][hapmap]
rs1737090	0.94[AFR][1000 genomes]
rs233475	1.00[YRI][hapmap]
rs2875969	1.00[YRI][hapmap]
rs4367417	1.00[YRI][hapmap]
rs59561097	0.84[AFR][1000 genomes]
rs7739527	0.80[AFR][1000 genomes]
rs808605	0.97[AFR][1000 genomes]
rs808609	0.97[AFR][1000 genomes]
rs808610	0.97[AFR][1000 genomes]
rs808612	0.89[AFR][1000 genomes]
rs808613	0.89[AFR][1000 genomes]
rs808614	0.89[AFR][1000 genomes]
rs808617	0.94[AFR][1000 genomes]
rs808619	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs808621	0.89[AFR][1000 genomes]
rs808623	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs808624	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs808629	0.89[AFR][1000 genomes]
rs808633	0.88[AFR][1000 genomes]
rs808636	0.89[AFR][1000 genomes]
rs808637	1.00[AFR][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:47 , 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	chr6:4870200-4871600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:4870200-4871600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:4870400-4873000	Enhancers	GM12878-XiMat	blood
15	chr6:4870600-4871800	Enhancers	HUVEC	blood vessel
16	chr6:4870800-4871600	Enhancers	Hela-S3	cervix
17	chr6:4870800-4872000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:4870800-4872000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:4870800-4872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:4870800-4872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:4870800-4872400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:4870800-4874200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:4871000-4871600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr6:4871000-4871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:4871000-4872400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:4871000-4872600	Enhancers	HMEC	breast
27	chr6:4871000-4876600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:4871200-4871600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:4871200-4871600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:4871200-4871600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr6:4871200-4872000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:4871200-4872200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:4871200-4872400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:4871200-4872400	Enhancers	K562	blood
35	chr6:4871400-4871600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:4871400-4871800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:4871400-4872400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:4871400-4872400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:4871400-4872400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr6:4871400-4872800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:4871400-4872800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:4871400-4872800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:4871400-4873000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:4871400-4873400	Enhancers	A549	lung
45	chr6:4871400-4875400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:4871400-4892000	Weak transcription	NHEK	skin

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