Variant report

Variant	rs631408
Chromosome Location	chr8:61541273-61541274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61531872..61533936-chr8:61540143..61541661,2	MCF-7	breast:
2	chr8:61540133..61541635-chr8:61542072..61544913,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10096140	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10098769	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10102740	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10435601	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10808709	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808710	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957142	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957144	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957145	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10957147	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10957150	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs10957151	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120591	0.96[CEU][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11774081	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11777673	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11777706	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995549	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996592	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12678742	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12680781	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12681129	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1319104	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1319105	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13257359	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13262390	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13265543	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13276831	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13439252	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1842389	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1893272	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1941463	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2013112	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2056415	0.96[CEU][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2096890	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155829	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2186986	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272620	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2272621	0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2326560	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326561	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326562	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2326568	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326569	0.96[CEU][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2326570	0.96[CEU][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2326571	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2625441	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625446	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28649594	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2875967	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2875968	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2875973	0.96[CEU][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875974	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2930040	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2946154	0.96[CEU][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981277	0.96[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735825	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735826	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3929643	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41420549	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4403445	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4452821	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55825491	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56294255	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs586377	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595255	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600811	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs601778	0.81[JPT][hapmap]
rs603035	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs608401	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs615031	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs617834	0.96[CEU][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs625850	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs625979	0.80[JPT][hapmap]
rs629268	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6471885	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6471886	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471888	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs652422	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs659118	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs660865	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs669599	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671576	0.81[JPT][hapmap]
rs67420552	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs684066	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs687978	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987084	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6992869	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993019	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6995515	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7000166	0.96[CEU][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7001696	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7007434	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7012181	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7013249	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7413	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7815543	0.96[CEU][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7822169	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824045	0.96[CEU][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7825612	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7827453	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7829359	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7834395	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7839474	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7839516	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7842586	0.96[CEU][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9298039	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs948422	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9643523	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs631408	RAB2A	cis	multi-tissue	Pritchard
rs631408	RAB2A	cis	Thyroid	GTEx
rs631408	RAB2	cis	lesional skin	skin_eQTL
rs631408	RAB2	cis	multi-tissue	Pritchard
rs631408	RAB2A	cis	lymphoblastoid	seeQTL
rs631408	RAB2	cis	normal skin	skin_eQTL
rs631408	RAB2	cis	uninvolved skin	skin_eQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
3	chr8:61532600-61541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:61535000-61542000	Weak transcription	A549	lung
5	chr8:61535400-61541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:61535400-61542200	Weak transcription	HSMMtube	muscle
7	chr8:61535600-61541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:61536000-61541600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:61536200-61541600	Weak transcription	HMEC	breast
10	chr8:61538200-61544000	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links