Variant report

Variant	rs11688992
Chromosome Location	chr2:56036348-56036349
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	chr2:56013752..56016593-chr2:56035639..56038180,2	MCF-7	breast:
2	chr2:56033387..56036369-chr2:56176860..56179763,2	K562	blood:

Variant related genes	Relation type
ENSG00000202344	Chromatin interaction
ENSG00000272180	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11678312	0.87[EUR][1000 genomes]
rs11679173	0.80[EUR][1000 genomes]
rs11682872	0.89[EUR][1000 genomes]
rs11691041	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691472	0.81[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11693381	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367229	0.87[EUR][1000 genomes]
rs17047302	0.92[EUR][1000 genomes]
rs17369365	0.87[EUR][1000 genomes]
rs2163238	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789713	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671258	0.90[CEU][hapmap];0.83[GIH][hapmap];0.86[EUR][1000 genomes]
rs4671261	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916998	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55987978	0.94[EUR][1000 genomes]
rs56102096	0.96[EUR][1000 genomes]
rs57233927	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59504093	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704679	0.86[EUR][1000 genomes]
rs6705051	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719384	0.92[EUR][1000 genomes]
rs6735306	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs72797607	0.87[EUR][1000 genomes]
rs72797613	0.87[EUR][1000 genomes]
rs72805666	0.87[EUR][1000 genomes]
rs72805668	0.87[EUR][1000 genomes]
rs72805673	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805674	1.00[EUR][1000 genomes]
rs72805675	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807727	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807728	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807744	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563085	0.81[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7581441	0.89[EUR][1000 genomes]
rs7582381	0.91[EUR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56029600-56037000	Weak transcription	Hela-S3	cervix
2	chr2:56032000-56036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:56032000-56036800	Weak transcription	A549	lung
4	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:56032200-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:56032200-56036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:56032200-56036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56033000-56037000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56033200-56037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56033200-56037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56033400-56037000	Weak transcription	Fetal Brain Female	brain
12	chr2:56033600-56037000	Weak transcription	Aorta	Aorta
13	chr2:56035600-56037000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:56035600-56037000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:56036000-56037000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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