Variant report

Variant	rs288244
Chromosome Location	chr2:183710951-183710952
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	chr2:183703011..183705323-chr2:183709490..183712980,3	K562	blood:
2	chr2:183691013..183692579-chr2:183710091..183711908,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1022337	0.82[JPT][hapmap]
rs10931052	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10931053	0.82[JPT][hapmap]
rs11899644	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12611998	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12612383	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs12617567	0.82[JPT][hapmap]
rs12992669	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12994001	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap]
rs13009031	0.82[JPT][hapmap]
rs16823896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16823936	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs169641	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138486	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs2368351	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2675049	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2675051	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2705741	0.82[JPT][hapmap]
rs288329	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34032114	0.85[ASN][1000 genomes]
rs34179918	0.92[ASN][1000 genomes]
rs34215267	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35039641	0.92[ASN][1000 genomes]
rs3791246	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs4414644	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4666876	1.00[JPT][hapmap]
rs6434001	1.00[CHB][hapmap]
rs6714190	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6718462	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap]
rs6726085	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap]
rs6730183	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs6732015	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6735651	1.00[CHB][hapmap]
rs6745341	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7566668	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7589630	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7592998	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288088	0.82[JPT][hapmap]
rs9333280	0.82[JPT][hapmap]
rs9789450	1.00[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
6	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised 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
10	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183689800-183719200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:183702400-183711200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:183702600-183716800	Weak transcription	HSMMtube	muscle
4	chr2:183705000-183716600	Weak transcription	Aorta	Aorta
5	chr2:183710400-183711200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:183710400-183711200	Enhancers	Fetal Heart	heart
7	chr2:183710400-183711200	Enhancers	Fetal Kidney	kidney
8	chr2:183710600-183711800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:183710600-183712200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:183710800-183711200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:183710800-183711200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:183710800-183719200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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