Variant report

Variant	rs703347
Chromosome Location	chr10:116468550-116468551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1029789	0.97[ASN][1000 genomes]
rs10885595	0.81[ASN][1000 genomes]
rs10885597	0.81[ASN][1000 genomes]
rs11196864	0.89[ASN][1000 genomes]
rs11196872	0.81[ASN][1000 genomes]
rs11196874	0.82[ASN][1000 genomes]
rs11196875	0.82[ASN][1000 genomes]
rs11196881	0.82[ASN][1000 genomes]
rs1968122	0.93[ASN][1000 genomes]
rs217194	0.96[ASN][1000 genomes]
rs703348	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075935	0.82[ASN][1000 genomes]
rs7100793	0.81[ASN][1000 genomes]
rs719895	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs719896	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs808251	0.89[ASN][1000 genomes]
rs808253	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs808256	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs808259	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882870	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
7	nsv1042170	chr10:116455043-116504871	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1046888	chr10:116455043-116505640	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1038822	chr10:116455647-116497204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116465000-116471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:116465200-116472600	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:116465400-116468600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:116465400-116470600	Enhancers	Hela-S3	cervix
5	chr10:116465400-116472200	Weak transcription	Brain Anterior Caudate	brain
6	chr10:116466400-116468800	Enhancers	Right Ventricle	heart
7	chr10:116466400-116473600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:116466600-116469600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:116466800-116469000	Enhancers	Left Ventricle	heart
10	chr10:116466800-116473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:116467800-116468800	Enhancers	Adipose Nuclei	Adipose
12	chr10:116467800-116468800	Enhancers	Stomach Mucosa	stomach
13	chr10:116467800-116469800	Enhancers	Fetal Heart	heart
14	chr10:116468000-116468600	Enhancers	NH-A	brain
15	chr10:116468000-116468800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:116468000-116468800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:116468000-116469200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:116468000-116469200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:116468000-116470000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr10:116468000-116470000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr10:116468000-116470000	Enhancers	NHDF-Ad	bronchial
22	chr10:116468000-116470200	Enhancers	HMEC	breast
23	chr10:116468000-116471200	Weak transcription	Right Atrium	heart
24	chr10:116468200-116468800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:116468200-116468800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:116468200-116469000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:116468200-116469000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:116468200-116469200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr10:116468200-116470200	Enhancers	Osteobl	bone
30	chr10:116468400-116468800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:116468400-116468800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:116468400-116469200	Enhancers	Primary hematopoietic stem cells	blood
33	chr10:116468400-116469200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:116468400-116469200	Flanking Active TSS	A549	lung
35	chr10:116468400-116469200	Enhancers	HUVEC	blood vessel
36	chr10:116468400-116470400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:116468400-116471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:116468400-116474200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr10:116468400-116474200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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