Variant report

Variant	rs6194
Chromosome Location	chr5:142678361-142678362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142672258..142673872-chr5:142678279..142679872,2	K562	blood:
2	chr5:142677715..142680053-chr5:142689105..142691252,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

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]
rs17100167	1.00[EUR][1000 genomes]
rs174048	1.00[ASN][1000 genomes]
rs174050	1.00[ASN][1000 genomes]
rs1837262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1866388	1.00[CHB][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[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258748	1.00[ASN][1000 genomes]
rs258750	1.00[JPT][hapmap]
rs258751	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[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[JPT][hapmap];0.95[ASN][1000 genomes]
rs2963148	0.95[ASN][1000 genomes]
rs2963149	1.00[JPT][hapmap]
rs2963150	0.95[ASN][1000 genomes]
rs2963151	1.00[JPT][hapmap]
rs2963154	1.00[CHB][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[JPT][hapmap];1.00[ASN][1000 genomes]
rs6188	1.00[JPT][hapmap]
rs6196	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6861962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6865608	1.00[EUR][1000 genomes]
rs712189	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs72801090	0.91[ASN][1000 genomes]
rs852977	1.00[JPT][hapmap]
rs852978	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs852979	0.98[ASN][1000 genomes]
rs852982	1.00[CHB][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];0.84[ASN][1000 genomes]
rs853176	0.85[ASN][1000 genomes]
rs853179	0.87[ASN][1000 genomes]
rs853182	1.00[ASN][1000 genomes]
rs853184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs860457	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs860458	1.00[ASN][1000 genomes]
rs864082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs864355	0.87[ASN][1000 genomes]
rs865482	1.00[ASN][1000 genomes]
rs9324918	1.00[CHB][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142655800-142699200	Strong transcription	Dnd41	blood
2	chr5:142657800-142695400	Weak transcription	Pancreas	Pancrea
3	chr5:142658000-142679000	Weak transcription	Colonic Mucosa	Colon
4	chr5:142658200-142694800	Weak transcription	Right Ventricle	heart
5	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
6	chr5:142659800-142679400	Weak transcription	Small Intestine	intestine
7	chr5:142659800-142692600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:142664000-142684600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:142664000-142685000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:142664400-142681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:142664400-142693400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:142667200-142682000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:142667400-142688800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:142667800-142681200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:142668000-142680200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:142668200-142680200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:142668600-142678400	Strong transcription	A549	lung
18	chr5:142668600-142680400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:142668600-142680800	Strong transcription	NHDF-Ad	bronchial
20	chr5:142668600-142688800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:142668800-142678600	Weak transcription	Fetal Stomach	stomach
22	chr5:142668800-142682400	Strong transcription	GM12878-XiMat	blood
23	chr5:142668800-142693800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:142669000-142680800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:142669200-142680200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:142669400-142680400	Strong transcription	Osteobl	bone
27	chr5:142669600-142682600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:142669800-142680200	Strong transcription	Primary T cells from cord blood	blood
29	chr5:142669800-142680200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:142669800-142680400	Strong transcription	Fetal Muscle Leg	muscle
31	chr5:142669800-142680400	Strong transcription	Fetal Thymus	thymus
32	chr5:142669800-142680400	Strong transcription	Thymus	Thymus
33	chr5:142669800-142680600	Strong transcription	Adipose Nuclei	Adipose
34	chr5:142669800-142681200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:142670000-142680200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr5:142670000-142681800	Strong transcription	Primary B cells from cord blood	blood
37	chr5:142670000-142683600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:142670200-142680400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:142670200-142682200	Strong transcription	Liver	Liver
40	chr5:142670600-142680400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:142671000-142680200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:142671200-142678400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr5:142671200-142680200	Strong transcription	Hela-S3	cervix
44	chr5:142671200-142686400	Weak transcription	Fetal Intestine Small	intestine
45	chr5:142671400-142678600	Strong transcription	Colon Smooth Muscle	Colon
46	chr5:142671400-142679000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:142671400-142680200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:142671400-142681200	Strong transcription	HSMM	muscle
49	chr5:142671400-142682200	Strong transcription	Placenta	Placenta
50	chr5:142671600-142680600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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