Variant report

Variant	rs1252654
Chromosome Location	chr2:30658913-30658914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10167083	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10175399	1.00[JPT][hapmap]
rs10183928	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12053428	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12468064	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1252625	1.00[JPT][hapmap]
rs1252631	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1252646	1.00[JPT][hapmap]
rs1252651	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1525062	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1869423	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1869424	1.00[CHB][hapmap]
rs1975555	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2121600	0.85[CHB][hapmap]
rs2123753	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2177698	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2593442	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2593474	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2602767	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2602808	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2609917	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4952147	1.00[JPT][hapmap]
rs6731031	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6740440	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7583211	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7591110	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7592355	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829563	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs829564	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs829565	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829574	1.00[JPT][hapmap]
rs829575	1.00[JPT][hapmap]
rs829582	1.00[JPT][hapmap]
rs829618	1.00[JPT][hapmap]
rs829619	1.00[JPT][hapmap]
rs829620	1.00[JPT][hapmap]
rs829622	1.00[JPT][hapmap]
rs829630	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829631	1.00[JPT][hapmap]
rs829632	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829634	1.00[JPT][hapmap]
rs829641	1.00[JPT][hapmap]
rs829642	1.00[JPT][hapmap]
rs829646	1.00[JPT][hapmap]
rs829653	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs829654	1.00[JPT][hapmap]
rs829655	1.00[JPT][hapmap]
rs829659	1.00[JPT][hapmap]
rs829661	1.00[JPT][hapmap]
rs829664	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829669	1.00[JPT][hapmap]
rs829671	1.00[JPT][hapmap]
rs829672	1.00[JPT][hapmap]
rs829673	1.00[JPT][hapmap]
rs829675	1.00[JPT][hapmap]
rs829677	1.00[JPT][hapmap]
rs829679	1.00[JPT][hapmap]
rs829680	1.00[JPT][hapmap]
rs829681	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829682	1.00[JPT][hapmap]
rs829684	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829695	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829696	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs829699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes]
rs829700	0.98[EUR][1000 genomes]
rs829701	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs844194	1.00[JPT][hapmap]
rs860487	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs866680	1.00[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:30646400-30662600	Weak transcription	Thymus	Thymus
2	chr2:30647800-30659800	Weak transcription	Left Ventricle	heart
3	chr2:30648600-30659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:30652000-30660800	Weak transcription	K562	blood
5	chr2:30656800-30660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:30656800-30660400	Weak transcription	Aorta	Aorta
7	chr2:30657000-30659400	Weak transcription	NHDF-Ad	bronchial
8	chr2:30657400-30659600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30657400-30659800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:30657800-30659800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30658000-30659200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:30658200-30665600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:30658400-30661000	Weak transcription	Ovary	ovary
14	chr2:30658600-30663000	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:30658600-30663600	Enhancers	Fetal Heart	heart

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