Variant report

Variant	rs16867504
Chromosome Location	chr2:182709212-182709213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10183937	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10460374	1.00[CEU][hapmap]
rs10803953	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12620901	0.88[JPT][hapmap]
rs12622894	0.82[AMR][1000 genomes]
rs1427333	0.82[AMR][1000 genomes]
rs16867502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867503	0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs16867506	0.82[AMR][1000 genomes]
rs1991374	0.82[AMR][1000 genomes]
rs4018749	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4508561	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57930770	0.90[ASN][1000 genomes]
rs6740944	0.90[ASN][1000 genomes]
rs6758834	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7567371	0.90[ASN][1000 genomes]
rs937296	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182703200-182717200	Weak transcription	Pancreas	Pancrea
2	chr2:182706000-182710400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:182707000-182711200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:182707000-182712800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:182707400-182709400	Weak transcription	Brain Anterior Caudate	brain
6	chr2:182707400-182709400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:182707400-182709600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:182707400-182711400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:182709200-182709400	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:182709200-182709600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:182709200-182709800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:182709200-182709800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:182709200-182711600	Enhancers	Brain Hippocampus Middle	brain

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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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