Variant report

Variant	rs73422544
Chromosome Location	chr7:111875182-111875183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11486988	0.83[AFR][1000 genomes]
rs16873388	1.00[AMR][1000 genomes]
rs57397677	1.00[AMR][1000 genomes]
rs58870749	1.00[AMR][1000 genomes]
rs60669231	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73424403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73424419	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73424431	1.00[AMR][1000 genomes]
rs73424457	1.00[AMR][1000 genomes]
rs73424472	1.00[AMR][1000 genomes]
rs73424486	1.00[AMR][1000 genomes]
rs73424489	1.00[AMR][1000 genomes]
rs73424499	1.00[AMR][1000 genomes]
rs73426433	1.00[AMR][1000 genomes]
rs73426464	1.00[AMR][1000 genomes]
rs73426494	1.00[AMR][1000 genomes]
rs73428448	1.00[AMR][1000 genomes]
rs73440668	0.89[AFR][1000 genomes];1.00[AMR][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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:111863800-111879000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
7	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
8	chr7:111870400-111878200	Weak transcription	Psoas Muscle	Psoas
9	chr7:111872800-111878400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:111873200-111878400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:111873400-111878600	Weak transcription	Right Ventricle	heart
12	chr7:111873600-111878600	Weak transcription	Pancreas	Pancrea
13	chr7:111873800-111876000	Weak transcription	Liver	Liver
14	chr7:111874000-111875800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:111874000-111875800	Weak transcription	HepG2	liver
16	chr7:111874000-111876000	Weak transcription	A549	lung
17	chr7:111874000-111879200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:111874800-111878200	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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