Variant report

Variant	rs808629
Chromosome Location	chr6:4880785-4880786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4880182..4882516-chr6:4938911..4940429,2	MCF-7	breast:
2	chr6:4878191..4880805-chr6:4882424..4884117,2	K562	blood:
3	chr6:4878197..4881265-chr6:4885596..4887989,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

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]
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]
rs808633	0.89[AFR][1000 genomes]
rs808636	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:72 , 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	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:4871400-4892000	Weak transcription	NHEK	skin
7	chr6:4872000-4883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:4873400-4883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
12	chr6:4874200-4882200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:4874800-4892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:4875000-4882200	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:4875000-4882200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:4875200-4892000	Weak transcription	Aorta	Aorta
20	chr6:4875400-4882200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:4875400-4882200	Weak transcription	Brain Anterior Caudate	brain
22	chr6:4875400-4882200	Weak transcription	Right Ventricle	heart
23	chr6:4875600-4880800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:4875600-4890200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:4876200-4884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:4876800-4884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:4877000-4892400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:4877200-4892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:4877200-4892800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:4877400-4882200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:4877400-4883200	Weak transcription	Left Ventricle	heart
32	chr6:4877400-4883600	Weak transcription	Lung	lung
33	chr6:4877400-4883600	Weak transcription	Psoas Muscle	Psoas
34	chr6:4877400-4883600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:4877400-4891400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:4877400-4892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:4877400-4892000	Weak transcription	Ovary	ovary
38	chr6:4877400-4892200	Weak transcription	Esophagus	oesophagus
39	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:4879200-4881400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr6:4879600-4881000	Enhancers	HepG2	liver
42	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:4879800-4881200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:4880000-4880800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:4880000-4881000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:4880000-4881000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:4880000-4881000	Enhancers	Fetal Intestine Large	intestine
48	chr6:4880000-4881000	Enhancers	K562	blood
49	chr6:4880000-4881200	Enhancers	Fetal Intestine Small	intestine
50	chr6:4880200-4880800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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