Variant report

Variant	rs864082
Chromosome Location	chr5:142663939-142663940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142661940..142664778-chr5:142666941..142669072,2	K562	blood:
2	chr5:142608719..142611580-chr5:142662478..142664615,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10052957	1.00[JPT][hapmap]
rs11747997	0.91[ASN][1000 genomes]
rs11749561	1.00[JPT][hapmap]
rs1438732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1635475	0.84[ASN][1000 genomes]
rs174048	1.00[ASN][1000 genomes]
rs174050	1.00[ASN][1000 genomes]
rs1837262	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1866388	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs190488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2043840	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs258748	1.00[ASN][1000 genomes]
rs258750	1.00[JPT][hapmap]
rs258751	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258752	0.84[ASN][1000 genomes]
rs258753	0.85[JPT][hapmap]
rs258757	0.82[ASN][1000 genomes]
rs258813	1.00[JPT][hapmap]
rs258814	1.00[ASN][1000 genomes]
rs2918415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2918416	1.00[JPT][hapmap]
rs2918417	1.00[JPT][hapmap]
rs2918418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2918419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2963148	0.95[ASN][1000 genomes]
rs2963149	1.00[JPT][hapmap]
rs2963150	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2963151	1.00[JPT][hapmap]
rs2963154	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs33380	0.95[ASN][1000 genomes]
rs33381	0.95[ASN][1000 genomes]
rs33382	0.95[ASN][1000 genomes]
rs33389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6188	1.00[JPT][hapmap]
rs6193	1.00[ASW][hapmap]
rs6194	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6196	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6861962	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs712189	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs72801090	0.91[ASN][1000 genomes]
rs852977	1.00[JPT][hapmap]
rs852978	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852979	0.98[ASN][1000 genomes]
rs852982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs852984	0.95[ASN][1000 genomes]
rs853156	0.84[ASN][1000 genomes]
rs853157	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs853176	0.85[ASN][1000 genomes]
rs853179	0.87[ASN][1000 genomes]
rs853182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853184	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs860457	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs860458	1.00[ASN][1000 genomes]
rs864355	0.87[ASN][1000 genomes]
rs865482	1.00[ASN][1000 genomes]
rs9324918	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv33748	chr5:142638267-142699595	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv5041	chr5:142653189-142697896	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142646600-142672400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:142650000-142674000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:142650600-142677200	Weak transcription	Aorta	Aorta
4	chr5:142652200-142669800	Weak transcription	Left Ventricle	heart
5	chr5:142653000-142671200	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:142653200-142674800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:142654600-142666600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:142655000-142664800	Weak transcription	NHEK	skin
9	chr5:142655000-142669800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:142655000-142671600	Weak transcription	K562	blood
11	chr5:142655200-142674000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:142655200-142674200	Weak transcription	Brain Angular Gyrus	brain
13	chr5:142655400-142672600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:142655800-142664600	Strong transcription	NHDF-Ad	bronchial
15	chr5:142655800-142669800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:142655800-142670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:142655800-142671800	Weak transcription	Psoas Muscle	Psoas
18	chr5:142655800-142677200	Weak transcription	Spleen	Spleen
19	chr5:142655800-142699200	Strong transcription	Dnd41	blood
20	chr5:142656000-142664000	Strong transcription	HSMM	muscle
21	chr5:142656000-142677400	Weak transcription	Gastric	stomach
22	chr5:142656400-142664400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:142656600-142671600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:142656600-142677000	Weak transcription	Lung	lung
25	chr5:142657000-142664400	Strong transcription	HMEC	breast
26	chr5:142657000-142674000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:142657800-142667800	Weak transcription	Fetal Stomach	stomach
28	chr5:142657800-142671800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:142657800-142695400	Weak transcription	Pancreas	Pancrea
30	chr5:142658000-142664000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:142658000-142664000	Strong transcription	Fetal Thymus	thymus
32	chr5:142658000-142665000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:142658000-142665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:142658000-142679000	Weak transcription	Colonic Mucosa	Colon
35	chr5:142658200-142664800	Strong transcription	Osteobl	bone
36	chr5:142658200-142665000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:142658200-142671400	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:142658200-142694800	Weak transcription	Right Ventricle	heart
39	chr5:142658400-142664000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:142658400-142664200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:142658400-142665000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:142658400-142665000	Strong transcription	Fetal Lung	lung
43	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
44	chr5:142658600-142664600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:142658800-142664000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:142658800-142677400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:142659400-142677200	Weak transcription	HSMMtube	muscle
48	chr5:142659600-142674600	Weak transcription	HepG2	liver
49	chr5:142659600-142677400	Weak transcription	Ovary	ovary
50	chr5:142659800-142679400	Weak transcription	Small Intestine	intestine

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