Variant report

Variant	rs375116200
Chromosome Location	chr2:208994547-208994548
allele	A/T
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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea
2	chr2:208990400-208995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:208992800-208994800	Weak transcription	Stomach Mucosa	stomach
4	chr2:208993400-209002200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:208994000-208998400	Enhancers	Fetal Intestine Large	intestine
6	chr2:208994200-208994600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:208994200-208994600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:208994200-208995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:208994200-208995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:208994200-208995400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:208994200-208996200	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:208994200-208997000	Enhancers	HMEC	breast
13	chr2:208994200-208998400	Enhancers	Fetal Intestine Small	intestine
14	chr2:208994400-208994600	Enhancers	HepG2	liver
15	chr2:208994400-208995200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:208994400-208995400	Enhancers	Placenta	Placenta
17	chr2:208994400-208995800	Enhancers	Rectal Mucosa Donor 29	rectum

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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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