Variant report

Variant	rs11690881
Chromosome Location	chr2:182257369-182257370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17198633	0.84[ASN][1000 genomes]
rs17198689	0.90[ASN][1000 genomes]
rs17198696	0.90[ASN][1000 genomes]
rs17198703	0.90[ASN][1000 genomes]
rs17198710	0.90[ASN][1000 genomes]
rs17198717	0.90[ASN][1000 genomes]
rs17270868	0.87[ASN][1000 genomes]
rs17270882	0.87[ASN][1000 genomes]
rs17270889	0.90[ASN][1000 genomes]
rs17270896	0.98[ASN][1000 genomes]
rs17270903	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365432	1.00[ASW][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap]
rs35262123	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180253	0.81[ASN][1000 genomes]
rs62180258	0.82[ASN][1000 genomes]
rs62182269	0.82[ASN][1000 genomes]
rs62189833	0.95[ASN][1000 genomes]
rs62189855	0.97[ASN][1000 genomes]
rs62189857	0.97[ASN][1000 genomes]
rs62189858	0.97[ASN][1000 genomes]
rs62189859	0.94[ASN][1000 genomes]
rs6726597	0.90[ASN][1000 genomes]
rs6726903	0.90[ASN][1000 genomes]
rs9646799	0.97[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	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	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11690881	ZNF385B	cis	parietal	SCAN
rs11690881	PAFAH1B1	trans	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:182240000-182257400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:182241600-182258200	Weak transcription	Fetal Thymus	thymus
4	chr2:182255800-182258200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:182257000-182257400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:182257000-182257600	Enhancers	HMEC	breast
7	chr2:182257200-182257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:182257200-182258000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:182257200-182258200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:182257200-182258200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:182257200-182258200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:182257200-182258200	Weak transcription	Small Intestine	intestine
13	chr2:182257200-182258200	Enhancers	Dnd41	blood
14	chr2:182257200-182258200	Weak transcription	NHDF-Ad	bronchial
15	chr2:182257200-182258200	Weak transcription	NHEK	skin
16	chr2:182257200-182262200	Enhancers	Primary hematopoietic stem cells	blood

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