Variant report

Variant	rs808312
Chromosome Location	chr10:116509129-116509130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11196894	1.00[ASN][1000 genomes]
rs217185	1.00[ASN][1000 genomes]
rs217186	1.00[ASN][1000 genomes]
rs217198	1.00[ASN][1000 genomes]
rs2532819	1.00[ASN][1000 genomes]
rs67402998	1.00[ASN][1000 genomes]
rs808252	1.00[ASN][1000 genomes]
rs808257	1.00[ASN][1000 genomes]
rs808260	1.00[ASN][1000 genomes]
rs808261	1.00[ASN][1000 genomes]
rs808262	1.00[ASN][1000 genomes]
rs808277	1.00[ASN][1000 genomes]
rs808278	1.00[ASN][1000 genomes]
rs808284	1.00[ASN][1000 genomes]
rs808292	1.00[ASN][1000 genomes]
rs808293	1.00[ASN][1000 genomes]
rs808297	1.00[ASN][1000 genomes]
rs808300	1.00[ASN][1000 genomes]
rs808304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808308	1.00[ASN][1000 genomes]
rs808309	1.00[ASN][1000 genomes]
rs808310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808313	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs808315	1.00[ASN][1000 genomes]
rs808317	1.00[ASN][1000 genomes]
rs808318	1.00[ASN][1000 genomes]
rs808319	1.00[ASN][1000 genomes]
rs808320	1.00[ASN][1000 genomes]
rs808324	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808326	1.00[ASN][1000 genomes]
rs808327	1.00[ASN][1000 genomes]
rs808328	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808329	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808333	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808334	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808335	1.00[ASN][1000 genomes]
rs808337	1.00[ASN][1000 genomes]
rs808345	1.00[ASN][1000 genomes]
rs808354	1.00[ASN][1000 genomes]
rs808356	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116486800-116514600	Weak transcription	Pancreas	Pancrea
2	chr10:116503200-116514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:116507000-116509800	Enhancers	Left Ventricle	heart
4	chr10:116507000-116510200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:116507000-116512000	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:116507200-116510000	Enhancers	Fetal Intestine Large	intestine
7	chr10:116508000-116509600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:116508000-116509800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:116508000-116509800	Enhancers	Adipose Nuclei	Adipose
10	chr10:116508000-116510000	Enhancers	Fetal Intestine Small	intestine
11	chr10:116508400-116509600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:116508400-116509600	Enhancers	HUVEC	blood vessel
13	chr10:116508400-116513400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:116508600-116509200	Enhancers	Brain Anterior Caudate	brain
15	chr10:116508600-116511200	Weak transcription	Right Atrium	heart
16	chr10:116508800-116509200	Flanking Active TSS	Fetal Heart	heart
17	chr10:116508800-116509200	Weak transcription	Right Ventricle	heart
18	chr10:116508800-116509600	Enhancers	Liver	Liver
19	chr10:116509000-116517200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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