Variant report

Variant	rs530982347
Chromosome Location	chr2:151352568-151352569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1001777	chr2:151351927-151395620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2762286	chr2:151351927-151395632	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151344200-151352600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:151350000-151352800	Enhancers	Osteobl	bone
3	chr2:151350600-151352800	Enhancers	NHDF-Ad	bronchial
4	chr2:151350600-151353000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:151350800-151352800	Enhancers	NHLF	lung
6	chr2:151351200-151352800	Enhancers	NHEK	skin
7	chr2:151351400-151353400	Enhancers	Fetal Heart	heart
8	chr2:151351800-151353400	Enhancers	HMEC	breast
9	chr2:151351800-151353600	Enhancers	NH-A	brain
10	chr2:151352000-151353000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:151352000-151353000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:151352000-151353600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:151352000-151354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:151352200-151352600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:151352200-151352600	Enhancers	HSMMtube	muscle
16	chr2:151352200-151353200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:151352200-151353200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:151352200-151353200	Flanking Active TSS	Hela-S3	cervix
19	chr2:151352200-151353400	Flanking Active TSS	A549	lung
20	chr2:151352200-151353600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:151352400-151352800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:151352400-151352800	Enhancers	HSMM	muscle
23	chr2:151352400-151352800	Enhancers	HUVEC	blood vessel
24	chr2:151352400-151353000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:151352400-151353000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:151352400-151353000	Enhancers	Fetal Lung	lung

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