Variant report

Variant	rs11196869
Chromosome Location	chr10:116442618-116442619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11196871	1.00[CEU][hapmap]
rs11814078	1.00[CHD][hapmap]
rs217190	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217191	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869076	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091958	1.00[CEU][hapmap]
rs808249	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs808250	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs808258	0.95[AFR][1000 genomes];0.85[AMR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11196869	RPL13AP6	cis	parietal	SCAN
rs11196869	PDZD8	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116424200-116443000	Weak transcription	Esophagus	oesophagus
2	chr10:116431600-116444000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:116435000-116444000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr10:116438600-116444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:116439000-116444000	Weak transcription	NHDF-Ad	bronchial
6	chr10:116439000-116444600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:116439200-116443400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:116439800-116444000	Enhancers	Fetal Lung	lung
9	chr10:116440600-116443200	Enhancers	HMEC	breast
10	chr10:116441000-116442800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:116441200-116442800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr10:116441200-116442800	Enhancers	NH-A	brain
13	chr10:116441200-116443000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:116441200-116443200	Enhancers	HSMM	muscle
15	chr10:116441200-116444000	Enhancers	Stomach Mucosa	stomach
16	chr10:116441200-116445200	Flanking Active TSS	HUVEC	blood vessel
17	chr10:116441400-116442800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:116441400-116443000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr10:116441400-116443200	Enhancers	Fetal Intestine Large	intestine
20	chr10:116441400-116443200	Enhancers	Fetal Stomach	stomach
21	chr10:116441400-116443800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:116441400-116444000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:116441400-116444000	Flanking Active TSS	Fetal Heart	heart
24	chr10:116441400-116444200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:116441400-116444400	Active TSS	Psoas Muscle	Psoas
26	chr10:116441400-116445600	Enhancers	Fetal Brain Male	brain
27	chr10:116441400-116446200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:116441600-116443000	Enhancers	Colon Smooth Muscle	Colon
29	chr10:116441600-116443000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr10:116441600-116443400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr10:116441600-116443600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:116441600-116444200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:116441600-116444600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:116441800-116443000	Weak transcription	Lung	lung
35	chr10:116441800-116443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:116441800-116443200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr10:116441800-116443200	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:116441800-116443200	Weak transcription	Pancreas	Pancrea
39	chr10:116441800-116443200	Weak transcription	Spleen	Spleen
40	chr10:116441800-116443200	Enhancers	HSMMtube	muscle
41	chr10:116441800-116443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:116441800-116443400	Weak transcription	Gastric	stomach
43	chr10:116441800-116443400	Active TSS	Right Atrium	heart
44	chr10:116441800-116443400	Weak transcription	Hela-S3	cervix
45	chr10:116441800-116443600	Active TSS	Right Ventricle	heart
46	chr10:116441800-116444000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr10:116441800-116444000	Active TSS	Adipose Nuclei	Adipose
48	chr10:116441800-116444000	Active TSS	Left Ventricle	heart
49	chr10:116441800-116444000	Weak transcription	Ovary	ovary
50	chr10:116441800-116445200	Weak transcription	Brain Angular Gyrus	brain

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