Variant report

Variant	rs2062637
Chromosome Location	chr4:78668800-78668801
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10005741	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs10007837	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs10222901	0.92[JPT][hapmap]
rs1039403	0.93[JPT][hapmap]
rs11097935	0.91[JPT][hapmap]
rs12510593	0.91[JPT][hapmap]
rs13111592	0.82[ASN][1000 genomes]
rs13118459	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs1501373	0.92[JPT][hapmap]
rs2102116	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2134048	0.85[JPT][hapmap]
rs2173869	0.93[JPT][hapmap]
rs2866689	0.86[JPT][hapmap]
rs2866690	0.86[JPT][hapmap]
rs2903291	0.92[JPT][hapmap]
rs3205281	0.92[JPT][hapmap]
rs4859871	0.84[JPT][hapmap]
rs4859872	0.85[ASN][1000 genomes]
rs4859876	0.82[ASN][1000 genomes]
rs4859878	0.92[JPT][hapmap]
rs6533239	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs6822317	0.83[JPT][hapmap]
rs6823465	0.82[ASN][1000 genomes]
rs6833179	0.85[ASN][1000 genomes]
rs6839504	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6850111	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs6855336	0.85[ASN][1000 genomes]
rs7655949	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs7669988	0.82[ASN][1000 genomes]
rs7674744	0.92[JPT][hapmap]
rs9993942	0.92[JPT][hapmap]

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	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv518757	chr4:78637265-78695138	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78629200-78676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:78632600-78697800	Weak transcription	Colonic Mucosa	Colon
3	chr4:78637400-78673200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr4:78639400-78671200	Weak transcription	Brain Germinal Matrix	brain
5	chr4:78640800-78697800	Weak transcription	Stomach Mucosa	stomach
6	chr4:78643800-78714000	Weak transcription	Lung	lung
7	chr4:78645000-78676600	Weak transcription	Hela-S3	cervix
8	chr4:78645400-78696200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:78646800-78677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:78650000-78682400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:78650000-78683800	Weak transcription	NHDF-Ad	bronchial
12	chr4:78650200-78673000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:78650200-78673000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:78650200-78697800	Weak transcription	Gastric	stomach
15	chr4:78650200-78697800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:78650200-78702800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:78650200-78720000	Weak transcription	Spleen	Spleen
18	chr4:78650800-78697800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:78653200-78673200	Weak transcription	Fetal Heart	heart
20	chr4:78654200-78697600	Weak transcription	HSMMtube	muscle
21	chr4:78657000-78695600	Weak transcription	Small Intestine	intestine
22	chr4:78657400-78673000	Weak transcription	Fetal Intestine Small	intestine
23	chr4:78658600-78669400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr4:78659000-78676600	Weak transcription	Fetal Stomach	stomach
25	chr4:78659200-78673000	Strong transcription	Primary B cells from cord blood	blood
26	chr4:78659600-78671400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:78659600-78672000	Weak transcription	GM12878-XiMat	blood
28	chr4:78659600-78673000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:78659800-78676000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:78659800-78685800	Weak transcription	Psoas Muscle	Psoas
31	chr4:78659800-78697800	Weak transcription	Esophagus	oesophagus
32	chr4:78662000-78695600	Weak transcription	Ovary	ovary
33	chr4:78662000-78697600	Weak transcription	Brain Angular Gyrus	brain
34	chr4:78662000-78697800	Weak transcription	Pancreas	Pancrea
35	chr4:78662200-78682400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:78662200-78697800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:78662400-78673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:78662600-78672400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:78662600-78679800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:78662800-78671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:78662800-78672000	Weak transcription	Fetal Lung	lung
42	chr4:78662800-78673000	Weak transcription	Aorta	Aorta
43	chr4:78662800-78673000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:78662800-78676200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:78662800-78676800	Weak transcription	Placenta	Placenta
46	chr4:78662800-78677600	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:78662800-78683400	Weak transcription	Fetal Kidney	kidney
48	chr4:78662800-78683600	Weak transcription	K562	blood
49	chr4:78663200-78673000	Weak transcription	Brain Anterior Caudate	brain
50	chr4:78663400-78671800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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