Variant report

Variant	rs953567
Chromosome Location	chr1:74977425-74977426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10218727	0.83[EUR][1000 genomes]
rs1040070	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs10493544	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs10890130	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs11210477	0.91[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs11210478	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs12036473	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs12041852	0.88[CEU][hapmap]
rs12041912	0.88[CEU][hapmap]
rs12042908	0.88[CEU][hapmap]
rs12142020	0.96[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12566985	0.88[CEU][hapmap]
rs12568287	0.86[EUR][1000 genomes]
rs1514173	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs1514174	0.92[CEU][hapmap]
rs1514176	0.88[CEU][hapmap]
rs1514177	0.87[CEU][hapmap]
rs2344508	0.88[CEU][hapmap]
rs34062471	0.84[EUR][1000 genomes]
rs3765680	0.96[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs3765681	0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs3843262	0.82[EUR][1000 genomes]
rs3845344	0.91[CEU][hapmap]
rs3845345	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs3845347	0.88[CEU][hapmap]
rs3894212	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs3895907	0.88[CEU][hapmap]
rs6604866	0.92[CEU][hapmap]
rs6604867	0.92[CEU][hapmap]
rs6604871	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs6604872	0.88[CEU][hapmap]
rs6656785	0.91[CEU][hapmap]
rs6690871	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6695685	0.84[EUR][1000 genomes]
rs6698622	0.96[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs6698760	0.86[EUR][1000 genomes]
rs6703637	0.96[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs7514705	0.88[CEU][hapmap]
rs7520945	0.88[CEU][hapmap]
rs7526762	0.92[CEU][hapmap]
rs7551507	0.88[CEU][hapmap]
rs7553158	0.88[CEU][hapmap]
rs7553348	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74959800-74977800	Weak transcription	Left Ventricle	heart
2	chr1:74974600-74977600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:74975600-74978400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:74975600-74978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:74977200-74979000	Genic enhancers	Fetal Heart	heart

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