Variant report

Variant	rs531450536
Chromosome Location	chr2:72465412-72465413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3439371	chr2:72465337-72465529	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72433200-72466000	Weak transcription	Right Ventricle	heart
2	chr2:72433200-72468600	Weak transcription	Right Atrium	heart
3	chr2:72462600-72465800	Enhancers	HMEC	breast
4	chr2:72462800-72465600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:72462800-72465800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:72462800-72465800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:72462800-72466200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:72463000-72465800	Enhancers	Osteobl	bone
9	chr2:72463000-72466000	Enhancers	NHDF-Ad	bronchial
10	chr2:72464200-72466200	Enhancers	NHEK	skin
11	chr2:72464200-72468000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:72464400-72468600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:72465000-72468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:72465000-72468200	Weak transcription	A549	lung
15	chr2:72465200-72468400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:72465400-72468000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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