Variant report

Variant	rs4556312
Chromosome Location	chr1:75015950-75015951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10890134	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs11210479	0.85[EUR][1000 genomes]
rs11210480	0.85[EUR][1000 genomes]
rs11580409	0.81[GIH][hapmap];0.93[TSI][hapmap]
rs12067338	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12728662	0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs1443372	0.85[EUR][1000 genomes]
rs1838131	0.86[EUR][1000 genomes]
rs2344504	0.85[EUR][1000 genomes]
rs3845351	0.85[EUR][1000 genomes]
rs3911349	0.86[EUR][1000 genomes]
rs4650275	0.86[EUR][1000 genomes]
rs56710753	0.83[EUR][1000 genomes]
rs59201609	0.84[EUR][1000 genomes]
rs6699857	0.86[EUR][1000 genomes]
rs696692	0.84[GIH][hapmap];0.90[TSI][hapmap]
rs699852	0.82[GIH][hapmap];0.87[TSI][hapmap]
rs699853	0.80[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap]
rs699856	0.80[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap]
rs7548647	0.86[EUR][1000 genomes]

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	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1003356	chr1:74983681-75024938	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74990200-75017200	Weak transcription	Left Ventricle	heart
2	chr1:75014600-75016000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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