Variant report

Variant	rs112075002
Chromosome Location	chr2:190449641-190449642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3443014	chr2:190449629-190450061	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190446800-190450200	Weak transcription	HUVEC	blood vessel
2	chr2:190446800-190450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190447400-190452200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:190448200-190450400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:190448400-190449800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:190448400-190457400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:190448600-190449800	Enhancers	Fetal Intestine Small	intestine
8	chr2:190448600-190450400	Enhancers	Fetal Intestine Large	intestine
9	chr2:190448600-190450600	Enhancers	Liver	Liver
10	chr2:190448600-190450600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:190448600-190451400	Enhancers	Ovary	ovary
12	chr2:190449200-190449800	Flanking Active TSS	K562	blood
13	chr2:190449200-190450000	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:190449200-190450200	Enhancers	HepG2	liver
15	chr2:190449400-190449800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:190449400-190450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:190449600-190450600	Enhancers	Stomach Mucosa	stomach

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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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