Variant report

Variant	rs17719358
Chromosome Location	chr10:116408865-116408866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10787544	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885589	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10885590	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109267	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11196828	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11196835	0.85[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196843	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs11196850	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11597188	0.81[AMR][1000 genomes]
rs12220330	0.96[ASN][1000 genomes]
rs12570718	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12776647	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1333681	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35505004	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4568917	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606401	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116394400-116422600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:116397200-116409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr10:116399200-116410400	Weak transcription	Brain Angular Gyrus	brain
4	chr10:116399800-116413800	Weak transcription	Spleen	Spleen
5	chr10:116403200-116412200	Weak transcription	Brain Anterior Caudate	brain
6	chr10:116404400-116409400	Weak transcription	Gastric	stomach
7	chr10:116404400-116411000	Enhancers	Fetal Heart	heart
8	chr10:116404600-116411200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr10:116404800-116409600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:116404800-116412200	Weak transcription	Lung	lung
11	chr10:116405000-116409400	Weak transcription	Pancreas	Pancrea
12	chr10:116405200-116413400	Weak transcription	Colonic Mucosa	Colon
13	chr10:116406200-116412800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:116406200-116422000	Weak transcription	Fetal Lung	lung
15	chr10:116406800-116410200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:116407000-116409000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:116407000-116409000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr10:116407000-116409600	Enhancers	HMEC	breast
19	chr10:116407000-116409800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:116407000-116410400	Enhancers	HSMM	muscle
21	chr10:116407200-116409000	Enhancers	NHLF	lung
22	chr10:116407200-116409400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:116407200-116409600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr10:116407200-116410200	Enhancers	Liver	Liver
25	chr10:116407200-116410200	Enhancers	HSMMtube	muscle
26	chr10:116407400-116410200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:116407600-116409000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr10:116407800-116411400	Enhancers	HepG2	liver
29	chr10:116408000-116409000	Enhancers	Adipose Nuclei	Adipose
30	chr10:116408000-116409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:116408000-116409600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:116408000-116410000	Enhancers	Right Atrium	heart
33	chr10:116408200-116409600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:116408200-116410200	Enhancers	Left Ventricle	heart
35	chr10:116408200-116412800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr10:116408400-116409600	Enhancers	Placenta	Placenta
37	chr10:116408400-116410000	Enhancers	Right Ventricle	heart
38	chr10:116408400-116410200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:116408400-116410800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr10:116408400-116415600	Enhancers	HUVEC	blood vessel
41	chr10:116408600-116409000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:116408600-116409400	Weak transcription	Stomach Mucosa	stomach
43	chr10:116408600-116409600	Enhancers	Hela-S3	cervix
44	chr10:116408600-116409600	Enhancers	NHEK	skin
45	chr10:116408600-116409800	Weak transcription	NHDF-Ad	bronchial
46	chr10:116408600-116410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr10:116408600-116411000	Enhancers	A549	lung
48	chr10:116408600-116413600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:116408600-116422000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:116408600-116441400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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