Variant report

Variant	rs72876786
Chromosome Location	chr4:82057858-82057859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11723204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1443540	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17005060	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17005063	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58198023	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60690485	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61131199	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61151552	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72871776	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72871779	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72871784	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72876762	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82046000-82058600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:82049800-82065800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:82050600-82062000	Strong transcription	Fetal Intestine Large	intestine
4	chr4:82052000-82058800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:82052200-82059000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:82052400-82074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:82052600-82059200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:82052600-82062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:82052800-82069800	Weak transcription	Fetal Brain Female	brain
11	chr4:82053400-82074800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:82054400-82074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:82054600-82065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:82054600-82075000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:82055200-82058000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:82055200-82065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:82056200-82058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:82056400-82058400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:82056400-82058400	Enhancers	NHLF	lung
20	chr4:82056400-82058400	Enhancers	Osteobl	bone
21	chr4:82056400-82059200	Enhancers	NHDF-Ad	bronchial
22	chr4:82056800-82058400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:82057200-82059600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:82057600-82058000	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:82057600-82058000	Flanking Active TSS	NH-A	brain
26	chr4:82057600-82058400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:82057600-82059200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:82057800-82058000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:82057800-82058000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:82057800-82058000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:82057800-82058200	Enhancers	Colon Smooth Muscle	Colon
32	chr4:82057800-82059200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:82057800-82059200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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