Variant report

Variant	rs3791686
Chromosome Location	chr2:212258353-212258354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12990779	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12998535	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs13003941	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1821658	0.88[ASN][1000 genomes]
rs1821659	0.90[ASN][1000 genomes]
rs1836719	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836720	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033643	0.81[ASN][1000 genomes]
rs3748962	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3828242	0.80[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.88[ASN][1000 genomes]
rs7565960	0.89[ASN][1000 genomes]
rs934606	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
5	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212255400-212258600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:212256000-212259600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212256200-212258600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:212256200-212261200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:212256400-212258400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:212256400-212258800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:212256400-212259600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:212256400-212261200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:212256400-212261400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:212258200-212258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:212258200-212259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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