Variant report

Variant	rs56730520
Chromosome Location	chr2:190231569-190231570
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190227574..190230494-chr2:190230881..190233590,2	MCF-7	breast:
2	chr2:190229232..190231892-chr2:190234841..190236403,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60528634	1.00[AFR][1000 genomes]
rs73978611	1.00[AFR][1000 genomes]
rs73978619	1.00[AFR][1000 genomes]
rs73978627	1.00[AFR][1000 genomes]
rs73982010	1.00[AFR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3451292	chr2:190225623-190266276	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190227600-190234800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:190228800-190232200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:190228800-190233400	Weak transcription	NH-A	brain
4	chr2:190228800-190233800	Weak transcription	HSMM	muscle
5	chr2:190228800-190234000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:190228800-190234000	Weak transcription	NHLF	lung
7	chr2:190228800-190234600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:190228800-190234600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:190228800-190234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:190228800-190234800	Weak transcription	HSMMtube	muscle
11	chr2:190229000-190232200	Weak transcription	A549	lung
12	chr2:190229000-190233000	Weak transcription	Osteobl	bone
13	chr2:190229000-190233200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:190229000-190233200	Weak transcription	HUVEC	blood vessel
15	chr2:190229000-190233600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190229000-190233600	Weak transcription	NHDF-Ad	bronchial
17	chr2:190229000-190234400	Weak transcription	Hela-S3	cervix
18	chr2:190229000-190234400	Weak transcription	NHEK	skin
19	chr2:190229200-190233400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:190229200-190234600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:190230600-190231800	Enhancers	HMEC	breast
22	chr2:190230800-190232400	Enhancers	Primary T cells from cord blood	blood
23	chr2:190231000-190231600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:190231000-190231800	Enhancers	Placenta	Placenta
25	chr2:190231400-190231800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:190231400-190234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:190231400-190234600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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