Variant report

Variant	rs630429
Chromosome Location	chr11:75074171-75074172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75059438..75065729-chr11:75070757..75077420,9	MCF-7	breast:
2	chr11:75073760..75076326-chr11:75079019..75081067,2	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11236417	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12363921	0.88[ASN][1000 genomes]
rs3016302	0.89[ASN][1000 genomes]
rs473233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs473961	0.89[ASN][1000 genomes]
rs475099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477625	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs477783	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs478777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs489691	0.82[ASN][1000 genomes]
rs515343	0.82[ASN][1000 genomes]
rs521455	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs532279	0.82[ASN][1000 genomes]
rs542784	0.87[ASN][1000 genomes]
rs546715	0.83[ASN][1000 genomes]
rs552129	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs555875	0.89[ASN][1000 genomes]
rs567647	0.82[ASN][1000 genomes]
rs575781	0.82[ASN][1000 genomes]
rs576508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs580152	0.83[ASN][1000 genomes]
rs598936	0.80[ASN][1000 genomes]
rs627133	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs629991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646360	0.93[ASN][1000 genomes]
rs654079	0.86[ASN][1000 genomes]
rs672534	0.83[ASN][1000 genomes]
rs686020	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv468637	chr11:75069871-75075866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv555445	chr11:75069871-75075866	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv516556	chr11:75071783-75080920	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75063600-75076800	Weak transcription	Hela-S3	cervix
2	chr11:75064200-75086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75066600-75076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:75067200-75076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:75068800-75080800	Weak transcription	Spleen	Spleen
6	chr11:75072200-75075800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:75072200-75076800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:75072200-75077000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:75072400-75076000	Weak transcription	Primary monocytes fromperipheralblood	blood

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