Variant report

Variant	rs59375712
Chromosome Location	chr2:72426947-72426948
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	chr2:72417923..72420576-chr2:72426721..72428374,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73942555	0.82[AFR][1000 genomes]
rs73942562	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942563	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942566	0.89[AFR][1000 genomes];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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72412800-72429800	Weak transcription	Right Ventricle	heart
2	chr2:72412800-72431000	Weak transcription	Left Ventricle	heart
3	chr2:72415400-72430800	Weak transcription	Placenta	Placenta
4	chr2:72419000-72430800	Weak transcription	Small Intestine	intestine
5	chr2:72419600-72429200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:72422200-72430400	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:72424400-72427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:72424600-72429600	Weak transcription	Right Atrium	heart
9	chr2:72425200-72427000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:72425400-72427000	Enhancers	Osteobl	bone
11	chr2:72425800-72427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:72425800-72427000	Enhancers	A549	lung
13	chr2:72426000-72427000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:72426000-72427000	Enhancers	NHDF-Ad	bronchial
15	chr2:72426200-72430800	Weak transcription	HepG2	liver
16	chr2:72426200-72431000	Weak transcription	Gastric	stomach
17	chr2:72426200-72431400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:72426200-72431400	Weak transcription	NHLF	lung
19	chr2:72426400-72427200	Enhancers	Esophagus	oesophagus
20	chr2:72426600-72430600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:72426600-72430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:72426600-72430800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:72426600-72430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:72426600-72430800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:72426600-72430800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:72426600-72430800	Weak transcription	NHEK	skin
27	chr2:72426600-72432000	Weak transcription	HSMM	muscle
28	chr2:72426800-72430600	Weak transcription	HMEC	breast
29	chr2:72426800-72430800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:72426800-72430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:72426800-72430800	Weak transcription	Fetal Intestine Small	intestine
32	chr2:72426800-72430800	Weak transcription	Stomach Mucosa	stomach
33	chr2:72426800-72437600	Weak transcription	NH-A	brain

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