Variant report

Variant	rs16867465
Chromosome Location	chr2:182523407-182523408
allele	A/C
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:16)

rs_ID	r²[population]
rs12052558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12053195	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1441147	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16867467	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2696344	0.86[ASN][1000 genomes]
rs2696348	0.86[ASN][1000 genomes]
rs2696352	0.86[ASN][1000 genomes]
rs3755022	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56114633	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6756950	0.90[CEU][hapmap]
rs72885393	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72885396	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72889320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72889322	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420169	0.91[CEU][hapmap]
rs866725	0.83[CEU][hapmap]

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	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	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr2:182522200-182526200	Enhancers	Duodenum Mucosa	Duodenum
2	chr2:182522400-182523600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr2:182522400-182523600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:182522400-182524800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:182522400-182526200	Enhancers	Fetal Intestine Large	intestine
6	chr2:182522400-182526800	Enhancers	Fetal Intestine Small	intestine
7	chr2:182522600-182523800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr2:182522600-182523800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr2:182522800-182523600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr2:182522800-182523800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr2:182523000-182523600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr2:182523200-182523600	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr2:182523400-182523600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:182523400-182523600	Enhancers	Spleen	Spleen

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

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