Variant report

Variant	rs808635
Chromosome Location	chr6:4876723-4876724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1016877	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11967994	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs11968021	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs1265332	0.86[CEU][hapmap];0.97[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1265333	0.86[CEU][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1265334	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1265335	0.86[CEU][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1265336	0.94[JPT][hapmap]
rs17138856	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs17138931	1.00[CHB][hapmap]
rs184588	0.86[CEU][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1883327	0.94[JPT][hapmap]
rs1891045	0.90[EUR][1000 genomes]
rs2179270	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2235429	0.93[CHB][hapmap]
rs233476	0.86[CEU][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs233477	0.94[JPT][hapmap]
rs233479	0.94[JPT][hapmap]
rs3748078	0.86[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4960046	0.87[EUR][1000 genomes]
rs62386574	0.82[EUR][1000 genomes]
rs62386576	0.83[EUR][1000 genomes]
rs62386577	0.83[EUR][1000 genomes]
rs62386591	0.81[EUR][1000 genomes]
rs62386593	0.86[EUR][1000 genomes]
rs62386594	0.86[EUR][1000 genomes]
rs62386612	0.87[EUR][1000 genomes]
rs62386614	0.89[EUR][1000 genomes]
rs73362560	0.83[EUR][1000 genomes]
rs808593	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs808598	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs808600	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs808607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs808608	0.89[EUR][1000 genomes]
rs808615	0.94[JPT][hapmap]
rs808622	0.94[JPT][hapmap]
rs9504254	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs9504271	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs9504281	1.00[CHB][hapmap];0.81[JPT][hapmap]

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:66 , 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	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:4866600-4880200	Weak transcription	HSMM	muscle
6	chr6:4868600-4880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:4871400-4892000	Weak transcription	NHEK	skin
10	chr6:4872000-4883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:4872400-4877000	Weak transcription	Psoas Muscle	Psoas
14	chr6:4872400-4879200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:4872400-4880200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:4872400-4880600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:4872600-4877000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:4872800-4877000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:4873200-4879200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:4873400-4880000	Weak transcription	Fetal Intestine Small	intestine
21	chr6:4873400-4883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:4873600-4879400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
24	chr6:4874200-4882200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:4874800-4892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:4875000-4877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:4875000-4877000	Weak transcription	Lung	lung
31	chr6:4875000-4882200	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:4875000-4882200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:4875200-4877000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:4875200-4877000	Weak transcription	Brain Substantia Nigra	brain
35	chr6:4875200-4880200	Weak transcription	Gastric	stomach
36	chr6:4875200-4892000	Weak transcription	Aorta	Aorta
37	chr6:4875400-4877000	Weak transcription	Esophagus	oesophagus
38	chr6:4875400-4877000	Weak transcription	Left Ventricle	heart
39	chr6:4875400-4877200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:4875400-4880000	Weak transcription	K562	blood
41	chr6:4875400-4880200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:4875400-4882200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:4875400-4882200	Weak transcription	Brain Anterior Caudate	brain
44	chr6:4875400-4882200	Weak transcription	Right Ventricle	heart
45	chr6:4875600-4880800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:4875600-4890200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:4875800-4880200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:4876000-4877400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:4876000-4878200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:4876200-4877000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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