Variant report

Variant	rs4233653
Chromosome Location	chr2:152487574-152487575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152485006..152487630-chr2:152562456..152564501,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10497084	0.86[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs11681877	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs12052998	0.83[EUR][1000 genomes]
rs16830047	0.85[JPT][hapmap]
rs16830059	0.85[JPT][hapmap]
rs16830061	0.90[JPT][hapmap]
rs16830067	0.85[JPT][hapmap];0.85[YRI][hapmap]
rs16830086	0.85[JPT][hapmap]
rs16830090	0.85[JPT][hapmap]
rs16830159	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs16830228	0.86[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2288211	0.95[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs3732308	0.85[JPT][hapmap]
rs3732312	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4507102	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664057	0.91[CHB][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap]
rs4664058	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs4664492	0.86[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55917454	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56002721	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56258194	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57082978	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58037758	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58909595	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58996775	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59723161	0.80[ASN][1000 genomes]
rs61254943	0.81[ASN][1000 genomes]
rs62174707	0.93[ASN][1000 genomes]
rs7422009	0.85[JPT][hapmap]

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	chr2:152483400-152488200	Strong transcription	HSMMtube	muscle
10	chr2:152485400-152492400	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:152486000-152488400	Enhancers	Fetal Intestine Small	intestine
12	chr2:152486200-152489600	Enhancers	Fetal Intestine Large	intestine
13	chr2:152486600-152487800	Enhancers	HepG2	liver
14	chr2:152487200-152487600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:152487400-152489400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links