Variant report

Variant	rs554191293
Chromosome Location	chr2:67274332-67274333
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2756926	chr2:67266707-67337017	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759058	chr2:67266707-67465662	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv34381	chr2:67273120-67316250	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67272400-67274800	Weak transcription	Pancreas	Pancrea
2	chr2:67273200-67274400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:67273200-67274800	Enhancers	Hela-S3	cervix
4	chr2:67273200-67275000	Enhancers	Fetal Intestine Small	intestine
5	chr2:67273200-67275000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:67273200-67275400	Enhancers	Fetal Intestine Large	intestine
7	chr2:67273600-67274400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:67273600-67275000	Enhancers	Stomach Mucosa	stomach
9	chr2:67274000-67274600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:67274200-67274400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr2:67274200-67275400	Enhancers	Fetal Lung	lung

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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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