Variant report

Variant	rs72920705
Chromosome Location	chr2:55948655-55948656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55941986..55943546-chr2:55946701..55948891,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11884148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57298935	0.83[AMR][1000 genomes]
rs57883523	1.00[AMR][1000 genomes]
rs58772635	1.00[AMR][1000 genomes]
rs59796313	0.83[AMR][1000 genomes]
rs59822040	0.83[AMR][1000 genomes]
rs60097935	1.00[AMR][1000 genomes]
rs6729650	1.00[AMR][1000 genomes]
rs72918887	1.00[AMR][1000 genomes]
rs72919784	1.00[AMR][1000 genomes]
rs72920703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72921811	0.83[AMR][1000 genomes]
rs72921812	1.00[AMR][1000 genomes]
rs72923707	0.83[AMR][1000 genomes]
rs72923710	0.83[AMR][1000 genomes]
rs72923716	0.83[AMR][1000 genomes]
rs72930820	1.00[AMR][1000 genomes]
rs72930831	0.83[AMR][1000 genomes]
rs72930837	1.00[AMR][1000 genomes]
rs72930864	1.00[AMR][1000 genomes]
rs7565042	1.00[AMR][1000 genomes]
rs7578877	1.00[AMR][1000 genomes]
rs7581700	1.00[AMR][1000 genomes]
rs7602095	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:55940800-55950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:55943200-55948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:55946000-55948800	Weak transcription	A549	lung
4	chr2:55946400-55948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:55946800-55954400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:55947600-55949200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:55947600-55949400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:55947800-55948800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:55948200-55949000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:55948200-55949000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:55948200-55949000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:55948200-55949800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:55948400-55948800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:55948400-55949600	Enhancers	HMEC	breast
15	chr2:55948600-55949200	Enhancers	NHEK	skin

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