Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143394255..143395855-chr4:143697810..143700529,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10010772	1.00[CHB][hapmap]
rs11100757	1.00[EUR][1000 genomes]
rs11100758	1.00[EUR][1000 genomes]
rs11100759	1.00[EUR][1000 genomes]
rs12498666	1.00[ASN][1000 genomes]
rs12499329	1.00[JPT][hapmap]
rs12502865	1.00[EUR][1000 genomes]
rs12502867	1.00[EUR][1000 genomes]
rs12504420	1.00[ASN][1000 genomes]
rs12504681	1.00[EUR][1000 genomes]
rs12507570	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12507620	1.00[EUR][1000 genomes]
rs12508023	1.00[EUR][1000 genomes]
rs17016749	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17016755	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17016765	0.92[AFR][1000 genomes]
rs17016776	1.00[EUR][1000 genomes]
rs2289792	1.00[ASN][1000 genomes]
rs2289793	1.00[ASN][1000 genomes]
rs28633136	1.00[EUR][1000 genomes]
rs55657725	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55862660	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55942956	1.00[EUR][1000 genomes]
rs56207111	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57356511	1.00[EUR][1000 genomes]
rs57908294	1.00[EUR][1000 genomes]
rs6831728	1.00[EUR][1000 genomes]
rs6832375	0.92[AFR][1000 genomes]
rs7670737	1.00[JPT][hapmap]
rs7689139	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7697637	1.00[JPT][hapmap]

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	nsv595606	chr4:143631691-143729595	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:143672600-143698400	Weak transcription	Aorta	Aorta
2	chr4:143684200-143706000	Weak transcription	Fetal Heart	heart
3	chr4:143695000-143698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:143697200-143698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143697400-143698400	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:143697400-143699000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:143697400-143699000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:143697400-143699200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:143698000-143699000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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