Variant report

Variant	rs7947980
Chromosome Location	chr11:75418163-75418164
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75297859..75300646-chr11:75417581..75420277,2	K562	blood:
2	chr11:75416234..75418863-chr11:75478065..75480151,2	MCF-7	breast:
3	chr11:75415903..75418586-chr11:75524285..75525879,2	MCF-7	breast:
4	chr11:75273492..75275162-chr11:75415663..75418287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	Chromatin interaction
ENSG00000062282	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000247867	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10793120	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236496	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1219285	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4450195	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4528358	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs486188	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944086	1.00[CEU][hapmap];0.85[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs513917	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs538782	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs541993	0.82[TSI][hapmap]
rs544992	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546018	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546156	0.82[TSI][hapmap]
rs571725	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590550	1.00[TSI][hapmap]
rs603289	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603290	0.88[CEU][hapmap]
rs604694	0.82[TSI][hapmap]
rs644991	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs656007	0.87[TSI][hapmap]
rs660343	0.82[TSI][hapmap]
rs660730	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs668348	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7106779	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110142	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7114999	0.88[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120751	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120898	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121750	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv983044	chr11:75415170-75418558	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7947980	P2RY2	cis	cerebellum	SCAN
rs7947980	XRCC5	trans	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75416800-75418400	Enhancers	Fetal Stomach	stomach
2	chr11:75417200-75418400	Enhancers	Fetal Heart	heart
3	chr11:75417200-75418400	Enhancers	Rectal Smooth Muscle	rectum
4	chr11:75417400-75419200	Weak transcription	Right Atrium	heart
5	chr11:75417800-75418200	Enhancers	HepG2	liver
6	chr11:75417800-75423800	Weak transcription	Colonic Mucosa	Colon
7	chr11:75417800-75424000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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