Variant report

Variant	rs16858255
Chromosome Location	chr2:12234602-12234603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11695912	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12998142	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6725876	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6738512	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs6738871	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv997538	chr2:12216408-12242734	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12217400-12249800	Weak transcription	GM12878-XiMat	blood
2	chr2:12224600-12236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:12224800-12238000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:12228400-12236400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:12231000-12238000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:12231000-12239800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:12231400-12236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:12233200-12236400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:12234000-12235000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:12234200-12234800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:12234200-12234800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:12234200-12235000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:12234400-12234800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:12234600-12256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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