Variant report

Variant	rs10880653
Chromosome Location	chr12:44983661-44983662
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1037435	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1037436	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10785501	0.85[JPT][hapmap]
rs10785503	0.86[ASN][1000 genomes]
rs10785505	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10785506	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10785507	0.81[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10785509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785510	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785511	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880652	0.83[ASN][1000 genomes]
rs10880654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880655	0.85[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1349621	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1376997	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1377280	0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1452256	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1452257	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1493748	0.89[JPT][hapmap]
rs1552860	0.90[JPT][hapmap]
rs1869253	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1901556	0.90[JPT][hapmap]
rs1908179	0.90[JPT][hapmap]
rs2060840	0.85[CHB][hapmap]
rs4143007	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4768555	0.90[JPT][hapmap]
rs4768556	0.90[JPT][hapmap]
rs61930801	0.86[ASN][1000 genomes]
rs61930833	0.86[ASN][1000 genomes]
rs728065	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7486016	0.86[ASN][1000 genomes]
rs765769	0.81[ASN][1000 genomes]
rs7953156	0.90[JPT][hapmap]
rs7966066	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7979765	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2762976	chr12:44969431-45000228	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:44977200-44984400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:44977400-44988600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:44977400-44995200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:44979000-44984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:44982800-44983800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:44983400-44984000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:44983600-44983800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:44983600-44983800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:44983600-44984800	Enhancers	HUES64 Cell Line	embryonic stem cell

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