Variant report

Variant	rs73967578
Chromosome Location	chr2:152488693-152488694
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11902616	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58135483	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717213	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73967581	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
2	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:152472000-152491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:152482000-152502400	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:152482000-152507600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:152482800-152493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:152482800-152494800	Weak transcription	Gastric	stomach
9	chr2:152485400-152492400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:152486200-152489600	Enhancers	Fetal Intestine Large	intestine
11	chr2:152487400-152489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:152487800-152490200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:152488200-152489600	Weak transcription	HSMMtube	muscle
14	chr2:152488400-152489600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:152488600-152499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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

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