Variant report

Variant	rs11640810
Chromosome Location	chr16:65042406-65042407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1025312	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459793	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11646481	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11647164	1.00[CEU][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11866839	0.86[EUR][1000 genomes]
rs12708869	1.00[CEU][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12922230	0.87[EUR][1000 genomes]
rs12923000	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12927264	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12931546	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1520233	1.00[ASW][hapmap];0.81[MEX][hapmap]
rs16968039	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1826821	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1845849	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs185393	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1864147	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2280394	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2331446	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2860056	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35141	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs35143	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs35181	0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs35183	0.81[ASN][1000 genomes]
rs35184	0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs35186	0.83[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs35187	0.81[ASN][1000 genomes]
rs35190	0.81[ASN][1000 genomes]
rs35197	0.81[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs3760056	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3826240	0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3891307	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4967877	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4967879	1.00[CEU][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4967881	0.81[EUR][1000 genomes]
rs7195682	0.81[ASN][1000 genomes]
rs973199	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9930786	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948640	chr16:64859061-65112790	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11640810	CMTM1	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:65023400-65043200	Strong transcription	Fetal Lung	lung
3	chr16:65025800-65051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:65032200-65043400	Weak transcription	Fetal Brain Male	brain
5	chr16:65036000-65051400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:65036400-65043400	Weak transcription	Brain Substantia Nigra	brain
7	chr16:65036400-65043600	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:65036600-65043600	Weak transcription	Brain Angular Gyrus	brain
9	chr16:65037000-65043800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:65037000-65044000	Strong transcription	Osteobl	bone
11	chr16:65037800-65044400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:65039000-65043600	Weak transcription	Brain Anterior Caudate	brain
13	chr16:65039000-65043800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:65039000-65043800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:65039000-65061200	Weak transcription	Aorta	Aorta
16	chr16:65039000-65089600	Weak transcription	Fetal Intestine Large	intestine
17	chr16:65039200-65068800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:65039400-65043600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:65039400-65043600	Weak transcription	Fetal Brain Female	brain
20	chr16:65039400-65050800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:65039600-65043600	Weak transcription	Brain Germinal Matrix	brain
22	chr16:65039600-65045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:65039600-65049000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:65039600-65079800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:65039800-65057400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr16:65040000-65044000	Weak transcription	Spleen	Spleen
27	chr16:65040000-65049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:65040200-65045800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:65040400-65043400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:65040400-65049800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:65040600-65043800	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:65040600-65045800	Weak transcription	HSMMtube	muscle
33	chr16:65040600-65086000	Weak transcription	HMEC	breast
34	chr16:65040800-65043800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:65041000-65045600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:65041000-65045800	Weak transcription	Ovary	ovary
37	chr16:65041000-65059200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:65041200-65072400	Weak transcription	Fetal Kidney	kidney
39	chr16:65041400-65045800	Weak transcription	HSMM	muscle
40	chr16:65041400-65045800	Weak transcription	NHLF	lung
41	chr16:65041600-65045800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:65041600-65046000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:65041600-65047000	Weak transcription	Fetal Stomach	stomach
44	chr16:65041800-65043000	Strong transcription	NH-A	brain
45	chr16:65042000-65043800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:65042000-65046200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:65042400-65042800	Strong transcription	NHDF-Ad	bronchial

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