Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29672255..29672967-chr12:30438671..30439609,2	K562	blood:
2	chr12:29672571..29673127-chr12:30438943..30439476,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257456	Chromatin interaction
ENSG00000133687	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10506065	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.81[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs10843678	0.82[AFR][1000 genomes]
rs10843688	0.92[AFR][1000 genomes]
rs10843696	0.95[AFR][1000 genomes]
rs10843712	0.95[CHD][hapmap]
rs10843713	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10843714	0.85[JPT][hapmap]
rs11050764	0.82[AFR][1000 genomes]
rs11050765	0.92[AFR][1000 genomes]
rs11050776	0.92[AFR][1000 genomes]
rs11050777	0.97[EUR][1000 genomes]
rs11050785	0.92[AFR][1000 genomes]
rs11615012	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12424849	0.86[AFR][1000 genomes]
rs1612581	0.80[YRI][hapmap]
rs1652189	0.80[YRI][hapmap]
rs1731515	1.00[YRI][hapmap]
rs1896900	0.92[AFR][1000 genomes]
rs2115684	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2195539	0.92[AFR][1000 genomes]
rs4032096	0.82[AFR][1000 genomes]
rs4143645	0.92[AFR][1000 genomes]
rs4423269	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4457837	0.82[AFR][1000 genomes]
rs4930915	0.92[AFR][1000 genomes]
rs4931306	0.82[AFR][1000 genomes]
rs4931311	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1042966	chr12:30420183-30439329	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11050798	TSPAN11	cis	cerebellum	SCAN
rs11050798	IPO8	cis	cerebellum	SCAN

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

No data

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