Variant report

Variant	rs808636
Chromosome Location	chr6:4875103-4875104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4873429..4876543-chr6:4877040..4879479,3	K562	blood:
2	chr6:4873429..4876153-chr6:4877079..4879479,2	K562	blood:
3	chr6:4865996..4868251-chr6:4873148..4875178,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

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]
rs7758083	1.00[JPT][hapmap]
rs808591	0.89[AFR][1000 genomes]
rs808605	0.86[AFR][1000 genomes]
rs808609	0.86[AFR][1000 genomes]
rs808610	0.86[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	0.89[AFR][1000 genomes]
rs808637	0.89[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:65 , 50 per page) page: 1 2

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	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:4866600-4880200	Weak transcription	HSMM	muscle
7	chr6:4868600-4880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:4871000-4876600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:4871400-4875400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:4871400-4892000	Weak transcription	NHEK	skin
13	chr6:4871600-4875800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:4871800-4876400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:4872000-4875200	Enhancers	Brain Substantia Nigra	brain
16	chr6:4872000-4883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:4872400-4875400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:4872400-4877000	Weak transcription	Psoas Muscle	Psoas
21	chr6:4872400-4879200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:4872400-4880200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:4872400-4880600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:4872600-4877000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:4872800-4877000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:4873000-4876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:4873200-4875400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:4873200-4876600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:4873200-4879200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:4873400-4875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:4873400-4880000	Weak transcription	Fetal Intestine Small	intestine
32	chr6:4873400-4883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:4873600-4875400	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:4873600-4879400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:4873800-4875400	Enhancers	Brain Anterior Caudate	brain
36	chr6:4873800-4876200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:4873800-4876400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:4874000-4875200	Enhancers	Gastric	stomach
39	chr6:4874000-4875200	Enhancers	Right Atrium	heart
40	chr6:4874000-4875400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:4874000-4875400	Enhancers	Left Ventricle	heart
42	chr6:4874000-4875400	Enhancers	Right Ventricle	heart
43	chr6:4874000-4875600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
45	chr6:4874200-4876200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:4874200-4882200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:4874400-4875400	Enhancers	K562	blood

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