Variant report

Variant	rs11125600
Chromosome Location	chr2:56009670-56009671
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56008821..56010807-chr2:56013593..56015981,2	MCF-7	breast:
2	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11676678	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11684982	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11693187	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11694759	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11694790	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11887339	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12614845	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1430199	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1430200	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1465624	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1961386	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4233963	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671259	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4672069	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6761334	0.85[ASN][1000 genomes]
rs7577894	0.85[ASN][1000 genomes]
rs9309269	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9309270	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs934274	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs934275	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs934276	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs934277	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv999962	chr2:55976574-56011517	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv997683	chr2:55976574-56013875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv431080	chr2:55988293-56011517	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 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	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56006200-56010200	Enhancers	Hela-S3	cervix
3	chr2:56008200-56010000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:56008200-56010000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:56008200-56010200	Enhancers	HMEC	breast
6	chr2:56008200-56010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:56008800-56010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:56008800-56010400	Weak transcription	HSMM	muscle
9	chr2:56009000-56010000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:56009000-56010000	Weak transcription	NHEK	skin
11	chr2:56009400-56009800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:56009400-56010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:56009400-56010600	Enhancers	A549	lung
14	chr2:56009600-56010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:56009600-56010800	Enhancers	Placenta Amnion	Placenta Amnion

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