Variant report

Variant	rs12618063
Chromosome Location	chr2:152531781-152531782
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152531745..152533702-chr2:152613377..152614925,2	K562	blood:
2	chr2:152530052..152532883-chr2:152536746..152539228,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10165921	0.88[CEU][hapmap]
rs10170273	0.88[GIH][hapmap]
rs10178880	0.85[GIH][hapmap]
rs10185966	0.80[JPT][hapmap]
rs11682909	0.84[GIH][hapmap]
rs11894672	0.84[GIH][hapmap]
rs11896217	0.87[GIH][hapmap]
rs12464543	0.81[GIH][hapmap]
rs12472627	0.88[CEU][hapmap];0.92[GIH][hapmap]
rs12620077	0.85[GIH][hapmap]
rs13404704	0.87[CHB][hapmap]
rs1523181	0.87[GIH][hapmap]
rs1916301	0.88[CEU][hapmap]
rs34577613	0.97[EUR][1000 genomes]
rs3768658	0.87[GIH][hapmap]
rs4300824	0.88[CEU][hapmap];0.97[GIH][hapmap]
rs4316939	1.00[CEU][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4393745	0.87[GIH][hapmap]
rs4414677	0.88[CEU][hapmap];0.92[GIH][hapmap]
rs4453694	0.89[GIH][hapmap]
rs4510224	0.86[GIH][hapmap]
rs4536649	0.85[GIH][hapmap]
rs4564766	0.81[GIH][hapmap]
rs4664066	0.84[GIH][hapmap]
rs4664494	0.83[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap]
rs4664496	0.96[EUR][1000 genomes]
rs4664498	0.88[CEU][hapmap];0.95[GIH][hapmap]
rs4664499	0.87[GIH][hapmap]
rs58903550	0.97[EUR][1000 genomes]
rs6433569	0.81[GIH][hapmap]
rs6711382	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6712443	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs6712533	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs6713162	0.87[GIH][hapmap]
rs6735208	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs7424335	0.88[CEU][hapmap];0.95[GIH][hapmap]
rs7426114	0.90[GIH][hapmap]
rs7564024	0.85[GIH][hapmap]
rs9287990	0.87[GIH][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	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
5	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
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
3	chr2:152521600-152537800	Weak transcription	Psoas Muscle	Psoas
4	chr2:152525600-152533000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:152527200-152536400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:152527400-152532800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:152527800-152532800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:152529200-152550000	Weak transcription	Aorta	Aorta
9	chr2:152531200-152532800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:152531400-152532800	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:152531600-152531800	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:152531600-152532000	Enhancers	Primary B cells from cord blood	blood
13	chr2:152531600-152532800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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