Variant report

Variant	rs683195
Chromosome Location	chr11:75382293-75382294
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	chr11:75378292..75381010-chr11:75381690..75384020,2	MCF-7	breast:
2	chr11:75368854..75370589-chr11:75380930..75383566,2	K562	blood:

Variant related genes	Relation type
ENSG00000171533	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1145698	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1368135	0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs2015782	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511005	0.94[CHB][hapmap]
rs544997	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs570559	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584046	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs601142	0.81[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs601293	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs609131	0.93[CHB][hapmap]
rs611221	0.81[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs617449	0.94[CHB][hapmap];0.97[GIH][hapmap]
rs61897968	0.83[AMR][1000 genomes]
rs629176	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs642002	0.94[CHB][hapmap]
rs644388	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs648930	0.81[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs652524	0.94[CHB][hapmap]
rs664133	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs678320	0.81[EUR][1000 genomes]
rs678874	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs684644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs683195	CTD-2530H12.4	cis	Artery Tibial	GTEx
rs683195	GAB2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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