Variant report

Variant	rs11893573
Chromosome Location	chr2:56007034-56007035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56005948..56008265-chr2:56009209..56011349,2	MCF-7	breast:
2	chr2:56001266..56003966-chr2:56005988..56008584,2	K562	blood:
3	chr2:55942470..55944889-chr2:56004945..56007451,2	MCF-7	breast:
4	chr2:56006149..56008907-chr2:56021297..56024096,2	MCF-7	breast:
5	chr2:56006332..56008999-chr2:56065171..56067853,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10496051	0.84[EUR][1000 genomes]
rs10496052	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11125602	0.84[EUR][1000 genomes]
rs11888377	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12464737	0.83[EUR][1000 genomes]
rs1346794	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1864457	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1946545	0.81[EUR][1000 genomes]
rs1985163	0.84[EUR][1000 genomes]
rs2009262	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58027672	0.83[EUR][1000 genomes]
rs59556444	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62164463	0.81[EUR][1000 genomes]
rs62167688	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62167689	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62167713	0.86[EUR][1000 genomes]
rs6724369	0.81[EUR][1000 genomes]
rs6752931	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7560657	0.81[EUR][1000 genomes]
rs7590753	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7601401	0.91[AMR][1000 genomes];0.93[EUR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55989400-56015000	Weak transcription	Aorta	Aorta
2	chr2:56003600-56007200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:56005600-56008800	Enhancers	HSMM	muscle
4	chr2:56006200-56010200	Enhancers	Hela-S3	cervix
5	chr2:56006400-56008200	Flanking Active TSS	A549	lung
6	chr2:56006400-56008200	Enhancers	HSMMtube	muscle
7	chr2:56006400-56008200	Enhancers	Osteobl	bone
8	chr2:56006400-56009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:56006600-56007200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:56006600-56007200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:56006600-56007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:56006600-56007200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr2:56006600-56007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:56006600-56007400	Flanking Active TSS	HUVEC	blood vessel
15	chr2:56006600-56008200	Enhancers	GM12878-XiMat	blood
16	chr2:56006800-56007200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:56006800-56007800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:56006800-56007800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:56006800-56008000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:56007000-56007200	Enhancers	NH-A	brain
21	chr2:56007000-56007200	Enhancers	NHEK	skin
22	chr2:56007000-56007400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:56007000-56007400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:56007000-56007400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:56007000-56007400	Active TSS	HMEC	breast

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