Variant report

Variant	rs12989378
Chromosome Location	chr2:182896104-182896105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10803954	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12053374	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12998659	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12999069	0.87[EUR][1000 genomes]
rs13021668	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13026985	0.87[EUR][1000 genomes]
rs1606932	0.87[EUR][1000 genomes]
rs6433946	0.87[EUR][1000 genomes]
rs6752989	0.87[EUR][1000 genomes]
rs7594388	0.84[CEU][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]

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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182895000-182896200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:182895600-182896200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:182895600-182896200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:182895600-182896200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:182895600-182896200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:182895600-182896400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:182895600-182896400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:182895600-182896400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:182895800-182896200	Active TSS	Liver	Liver
11	chr2:182895800-182896400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:182896000-182896200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:182896000-182896200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:182896000-182896200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr2:182896000-182896200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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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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