Variant report

Variant	rs62636597
Chromosome Location	chr4:7873695-7873696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs28373141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58253022	1.00[AMR][1000 genomes]
rs6814511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6814649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834502	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848487	1.00[AMR][1000 genomes]
rs6848677	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73794756	1.00[AMR][1000 genomes]
rs7664180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7665218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7865400-7875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:7866000-7874000	Weak transcription	Fetal Kidney	kidney
4	chr4:7866000-7875200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7866000-7875400	Weak transcription	Stomach Mucosa	stomach
6	chr4:7866000-7877600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:7866000-7877800	Weak transcription	HepG2	liver
8	chr4:7866000-7882400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:7866000-7885600	Weak transcription	Esophagus	oesophagus
10	chr4:7869200-7880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7869600-7877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:7869800-7878000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:7870200-7874000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:7870400-7876800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:7870400-7879200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:7870400-7882400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:7870600-7873800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:7870600-7874000	Strong transcription	HUVEC	blood vessel
19	chr4:7870600-7877200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:7870600-7877200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:7870600-7877600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:7870600-7878000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:7870600-7878000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:7871000-7873800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:7871000-7874000	Transcr. at gene 5' and 3'	Osteobl	bone
26	chr4:7872400-7874000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr4:7872600-7874600	Enhancers	Fetal Heart	heart
28	chr4:7872800-7874000	Enhancers	Brain Substantia Nigra	brain
29	chr4:7872800-7874000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr4:7872800-7874200	Enhancers	Brain Anterior Caudate	brain
31	chr4:7873000-7874000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr4:7873000-7874200	Enhancers	Ovary	ovary
33	chr4:7873000-7874400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr4:7873000-7874400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:7873000-7874400	Enhancers	Left Ventricle	heart
36	chr4:7873000-7874400	Enhancers	Pancreas	Pancrea
37	chr4:7873000-7875800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:7873200-7874200	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr4:7873200-7874400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:7873200-7874400	Enhancers	Fetal Brain Female	brain
41	chr4:7873200-7874600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:7873200-7874600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:7873200-7874600	Enhancers	Placenta	Placenta
44	chr4:7873200-7874600	Flanking Active TSS	Hela-S3	cervix
45	chr4:7873200-7875200	Weak transcription	Colonic Mucosa	Colon
46	chr4:7873400-7873800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:7873400-7873800	Enhancers	Brain Angular Gyrus	brain
48	chr4:7873400-7873800	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:7873400-7873800	Enhancers	Fetal Intestine Large	intestine
50	chr4:7873400-7873800	Enhancers	Fetal Lung	lung

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