Variant report

Variant	rs56258194
Chromosome Location	chr2:152489433-152489434
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:16)

rs_ID	r²[population]
rs11681877	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12052998	0.82[EUR][1000 genomes]
rs16830228	0.82[EUR][1000 genomes]
rs2288211	0.82[EUR][1000 genomes]
rs3732312	0.82[EUR][1000 genomes]
rs4233653	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4507102	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664492	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55917454	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56002721	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57082978	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58037758	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58909595	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58996775	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61254943	0.81[ASN][1000 genomes]
rs62174707	0.92[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152472000-152491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:152482000-152502400	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:152482000-152507600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:152482800-152493800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:152482800-152494800	Weak transcription	Gastric	stomach
8	chr2:152485400-152492400	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:152486200-152489600	Enhancers	Fetal Intestine Large	intestine
10	chr2:152487800-152490200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:152488200-152489600	Weak transcription	HSMMtube	muscle
12	chr2:152488400-152489600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:152488600-152499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:152489200-152492000	Strong transcription	Psoas Muscle	Psoas
15	chr2:152489400-152489800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:152489400-152489800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:152489400-152490400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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

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