Variant report

Variant	rs7636504
Chromosome Location	chr3:134693052-134693053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10935143	0.84[CHD][hapmap]
rs11707505	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs11707539	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs11719020	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs11929692	0.90[ASN][1000 genomes]
rs12495634	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457558	0.86[ASN][1000 genomes]
rs1457559	0.90[ASN][1000 genomes]
rs1457560	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs1457561	0.90[ASN][1000 genomes]
rs1457562	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1457563	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1562508	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs1562509	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs185257	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs1982548	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs2895707	0.90[ASN][1000 genomes]
rs36167	0.81[CHD][hapmap]
rs4955459	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs4955460	0.84[TSI][hapmap]
rs4955461	0.90[CHB][hapmap];0.84[CHD][hapmap];0.90[ASN][1000 genomes]
rs4955462	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4955463	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4955520	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs4955522	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs4955523	0.90[ASN][1000 genomes]
rs4955524	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs4955527	0.90[CHB][hapmap];0.93[CHD][hapmap];0.90[ASN][1000 genomes]
rs4955528	0.90[ASN][1000 genomes]
rs4955530	0.90[ASN][1000 genomes]
rs4955531	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58101610	0.90[ASN][1000 genomes]
rs6439537	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs6439538	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs6439539	0.90[ASN][1000 genomes]
rs6763913	0.82[CHB][hapmap]
rs6768729	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs6768739	0.82[ASN][1000 genomes]
rs6769875	0.90[ASN][1000 genomes]
rs6781640	0.90[CHB][hapmap];0.93[CHD][hapmap];0.90[ASN][1000 genomes]
rs6782004	0.84[CHD][hapmap];0.84[TSI][hapmap]
rs6782446	0.90[ASN][1000 genomes]
rs6785203	0.90[ASN][1000 genomes]
rs6795875	0.90[ASN][1000 genomes]
rs6795876	0.90[ASN][1000 genomes]
rs6806959	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs7614037	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7629642	0.90[ASN][1000 genomes]
rs7636573	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637367	0.90[ASN][1000 genomes]
rs7644369	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs7648054	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289487	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs936323	0.90[CHB][hapmap];0.93[CHD][hapmap];0.90[ASN][1000 genomes]
rs936324	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs936325	0.81[CHD][hapmap];0.84[TSI][hapmap]
rs972234	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs972235	0.88[ASN][1000 genomes]
rs972236	0.90[ASN][1000 genomes]
rs975149	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs9815290	0.90[CHB][hapmap];0.84[CHD][hapmap];0.90[ASN][1000 genomes]
rs9818859	0.84[TSI][hapmap]
rs9819131	0.82[CHB][hapmap]
rs9824682	0.90[ASN][1000 genomes]
rs9825380	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[ASN][1000 genomes]
rs9856814	0.90[CHB][hapmap];0.87[CHD][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs9859282	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs9869233	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs9874260	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv877516	chr3:134689420-134918522	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7636504	EPHB1	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134671000-134693400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:134671000-134697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:134677400-134697400	Weak transcription	GM12878-XiMat	blood
4	chr3:134677800-134697000	Weak transcription	Psoas Muscle	Psoas
5	chr3:134678600-134699400	Weak transcription	Aorta	Aorta
6	chr3:134690600-134693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:134690600-134702400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:134690800-134701200	Weak transcription	Fetal Brain Female	brain
9	chr3:134692000-134693200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:134692800-134693200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:134692800-134693800	Enhancers	Spleen	Spleen
12	chr3:134693000-134693200	Enhancers	Fetal Brain Male	brain
13	chr3:134693000-134693200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:134693000-134693600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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