Variant report

Variant	rs544490785
Chromosome Location	chr2:128293114-128293115
allele	C/T
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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv2912	chr2:128281152-128307830	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv998519	chr2:128292190-128352032	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
3	chr2:128289000-128294400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:128291000-128293200	Enhancers	Fetal Intestine Large	intestine
5	chr2:128291600-128293200	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:128291600-128293200	Enhancers	Fetal Intestine Small	intestine
7	chr2:128292000-128293200	Enhancers	Colonic Mucosa	Colon
8	chr2:128292200-128294000	Bivalent Enhancer	HepG2	liver
9	chr2:128292400-128293200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:128293000-128293200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:128293000-128293200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr2:128293000-128293400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:128293000-128293400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:128293000-128295600	Active TSS	Rectal Mucosa Donor 29	rectum

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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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