Variant report

Variant	rs11814622
Chromosome Location	chr10:38236345-38236346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10827821	0.82[AFR][1000 genomes]
rs10827830	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10827834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10827837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10827838	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011356	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11011357	0.82[AFR][1000 genomes]
rs11011364	1.00[EUR][1000 genomes]
rs11011368	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11011375	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11011376	1.00[EUR][1000 genomes]
rs11011385	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11011393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011412	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11011428	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011429	1.00[EUR][1000 genomes]
rs11011430	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11011438	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11812927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813723	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11816995	0.82[AFR][1000 genomes]
rs11817696	1.00[EUR][1000 genomes]
rs11817782	0.94[AFR][1000 genomes]
rs11818933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11819551	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12240311	1.00[EUR][1000 genomes]
rs12241614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242343	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245586	1.00[EUR][1000 genomes]
rs12248857	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12250395	1.00[EUR][1000 genomes]
rs12251570	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12252091	0.89[EUR][1000 genomes]
rs12252754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256181	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12256794	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256916	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12257902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258024	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12258128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258252	1.00[EUR][1000 genomes]
rs12260189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12260310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262814	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12262927	1.00[EUR][1000 genomes]
rs12266728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267923	1.00[EUR][1000 genomes]
rs12269398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12770231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12773340	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12777107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12778900	1.00[EUR][1000 genomes]
rs12779056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2023432	1.00[EUR][1000 genomes]
rs34152840	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34222428	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34445730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34591573	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34724357	1.00[EUR][1000 genomes]
rs34918037	1.00[EUR][1000 genomes]
rs34964888	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35006520	1.00[EUR][1000 genomes]
rs35056062	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35246660	1.00[EUR][1000 genomes]
rs35404142	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35818588	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57753536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60538050	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491203	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71491210	1.00[EUR][1000 genomes]
rs71491212	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71491214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491227	1.00[EUR][1000 genomes]
rs71491228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71491229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9651365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1052703	chr10:38174640-38266472	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38201400-38240000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr10:38220800-38241000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:38223400-38241000	Weak transcription	Brain Angular Gyrus	brain
4	chr10:38223600-38240600	Weak transcription	Aorta	Aorta
5	chr10:38227400-38241000	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:38227400-38241600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:38227600-38238000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:38227800-38239200	Weak transcription	Adipose Nuclei	Adipose
9	chr10:38229400-38238000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:38229400-38241000	Weak transcription	Fetal Brain Male	brain
11	chr10:38229600-38240600	Weak transcription	Right Ventricle	heart
12	chr10:38230400-38236800	Weak transcription	Ovary	ovary
13	chr10:38231600-38238800	Weak transcription	Brain Anterior Caudate	brain
14	chr10:38231800-38238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:38231800-38239600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:38232000-38240200	Weak transcription	Fetal Brain Female	brain
17	chr10:38232400-38241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:38232600-38236800	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:38232600-38240400	Weak transcription	Fetal Lung	lung
20	chr10:38232800-38236800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:38232800-38238000	Weak transcription	Primary B cells from cord blood	blood
22	chr10:38233000-38237000	Weak transcription	Lung	lung
23	chr10:38233000-38239200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr10:38233000-38240000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:38233000-38241200	Weak transcription	Esophagus	oesophagus
26	chr10:38233200-38238600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:38233200-38240400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:38233400-38240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:38233400-38241000	Weak transcription	Spleen	Spleen
30	chr10:38234000-38241600	Weak transcription	Small Intestine	intestine
31	chr10:38234200-38241000	Weak transcription	Thymus	Thymus
32	chr10:38234800-38236800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:38234800-38238200	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:38234800-38239400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr10:38234800-38240200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:38234800-38241000	Weak transcription	Brain Germinal Matrix	brain
37	chr10:38235000-38236600	Weak transcription	Primary T cells from cord blood	blood
38	chr10:38235000-38236800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:38235000-38237800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:38235000-38239000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:38235000-38239000	Weak transcription	Left Ventricle	heart
42	chr10:38235000-38240800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:38235400-38236600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:38236000-38241000	Weak transcription	A549	lung
45	chr10:38236200-38236400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:38236200-38237800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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