Variant report

Variant	rs72809697
Chromosome Location	chr2:56123927-56123928
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	chr2:56122744..56124616-chr2:56146094..56148120,2	MCF-7	breast:
2	chr2:56122074..56124706-chr2:56141826..56144202,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10187284	1.00[AMR][1000 genomes]
rs13401367	1.00[AMR][1000 genomes]
rs35447389	1.00[AMR][1000 genomes]
rs6716543	1.00[AMR][1000 genomes]
rs6720328	1.00[AMR][1000 genomes]
rs6745000	1.00[AMR][1000 genomes]
rs6748387	1.00[AMR][1000 genomes]
rs6748586	1.00[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56115400-56125800	Weak transcription	HSMMtube	muscle
2	chr2:56115400-56128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:56116400-56125800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:56116400-56128600	Weak transcription	Ovary	ovary
5	chr2:56116400-56128800	Weak transcription	Placenta	Placenta
6	chr2:56116400-56128800	Weak transcription	Pancreas	Pancrea
7	chr2:56116400-56144400	Weak transcription	Lung	lung
8	chr2:56116600-56128200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:56116600-56128200	Weak transcription	HMEC	breast
10	chr2:56116600-56131000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:56119000-56128200	Weak transcription	A549	lung
12	chr2:56119400-56126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56119400-56126800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:56119400-56126800	Weak transcription	NHLF	lung
15	chr2:56119600-56136400	Genic enhancers	HUVEC	blood vessel
16	chr2:56119800-56128400	Weak transcription	NH-A	brain
17	chr2:56120000-56124000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:56120000-56126400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:56120000-56128000	Weak transcription	Hela-S3	cervix
20	chr2:56121000-56124000	Weak transcription	HSMM	muscle
21	chr2:56121800-56124000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:56122000-56124200	Strong transcription	NHEK	skin
23	chr2:56122400-56124200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:56122400-56125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:56122400-56127400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:56122600-56128400	Strong transcription	Osteobl	bone
27	chr2:56122600-56135000	Weak transcription	Aorta	Aorta
28	chr2:56123200-56124200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:56123200-56128200	Weak transcription	K562	blood

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