Variant report

Variant	rs2080550
Chromosome Location	chr12:22255833-22255834
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10743436	0.98[ASN][1000 genomes]
rs10770888	0.99[ASN][1000 genomes]
rs10841943	0.99[ASN][1000 genomes]
rs10841944	0.99[ASN][1000 genomes]
rs11046303	0.99[ASN][1000 genomes]
rs2418042	0.98[ASN][1000 genomes]
rs2900495	0.87[EUR][1000 genomes]
rs2909067	0.89[EUR][1000 genomes]
rs7304110	0.89[EUR][1000 genomes]
rs7304537	0.89[EUR][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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv437729	chr12:22234058-22268523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv437730	chr12:22242255-22257120	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22253600-22256800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr12:22253800-22256400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:22254000-22256600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:22254200-22256000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:22254200-22256000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:22254200-22256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:22254800-22256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:22255400-22258400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:22255400-22262200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:22255600-22256800	Weak transcription	Right Ventricle	heart
11	chr12:22255600-22257800	Weak transcription	HSMM	muscle
12	chr12:22255600-22258200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:22255800-22257800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:22255800-22258000	Weak transcription	NHDF-Ad	bronchial

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Input of quick search could be:

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

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