Variant report

Variant	rs3777187
Chromosome Location	chr5:95254530-95254531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95248637..95251285-chr5:95252378..95254672,2	K562	blood:
2	chr5:95249774..95251634-chr5:95252118..95254823,2	MCF-7	breast:
3	chr5:95246760..95250137-chr5:95252378..95255007,4	K562	blood:
4	chr5:95252836..95254992-chr5:95276353..95279101,2	K562	blood:

Variant related genes	Relation type
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12654157	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17085255	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17085286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279035	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2279036	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3756702	0.83[ASN][1000 genomes]
rs3777195	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs58029921	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs58030063	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59649666	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61278429	0.91[ASN][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95223000-95259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
3	chr5:95232400-95255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:95236800-95260000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:95238200-95260400	Weak transcription	A549	lung
7	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
8	chr5:95242600-95259000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:95242600-95259800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:95243000-95255600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:95243000-95256800	Enhancers	Brain Substantia Nigra	brain
12	chr5:95243400-95278800	Weak transcription	Lung	lung
13	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:95244400-95258600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:95244800-95260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:95245000-95254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:95245000-95256400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:95245200-95259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:95245800-95255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:95245800-95256200	Strong transcription	NHEK	skin
21	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
22	chr5:95249800-95271600	Weak transcription	NH-A	brain
23	chr5:95250600-95263000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:95251200-95254600	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr5:95251200-95254800	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:95251200-95259000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:95251200-95260200	Genic enhancers	Liver	Liver
28	chr5:95251200-95261800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:95251400-95260200	Genic enhancers	HepG2	liver
30	chr5:95251600-95254800	Enhancers	Brain Angular Gyrus	brain
31	chr5:95251600-95259000	Weak transcription	Stomach Mucosa	stomach
32	chr5:95251800-95257200	Strong transcription	Hela-S3	cervix
33	chr5:95251800-95259000	Weak transcription	Right Ventricle	heart
34	chr5:95252000-95258600	Weak transcription	NHLF	lung
35	chr5:95252200-95254600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:95252200-95255400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:95252200-95256200	Weak transcription	Esophagus	oesophagus
38	chr5:95252200-95256600	Weak transcription	Spleen	Spleen
39	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:95252400-95254600	Enhancers	Dnd41	blood
42	chr5:95252400-95256200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:95252400-95256200	Weak transcription	Aorta	Aorta
44	chr5:95252400-95256200	Weak transcription	Gastric	stomach
45	chr5:95252400-95256200	Weak transcription	Left Ventricle	heart
46	chr5:95252400-95256200	Weak transcription	Pancreas	Pancrea
47	chr5:95252400-95256200	Strong transcription	HMEC	breast
48	chr5:95252400-95256600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:95252400-95257200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:95252400-95259000	Weak transcription	Psoas Muscle	Psoas

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