Variant report

Variant	rs40117
Chromosome Location	chr16:65006333-65006334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11642165	1.00[ASN][1000 genomes]
rs11863441	1.00[ASN][1000 genomes]
rs12708870	1.00[ASN][1000 genomes]
rs1423995	1.00[ASN][1000 genomes]
rs1560192	1.00[ASN][1000 genomes]
rs1864148	1.00[ASN][1000 genomes]
rs257338	1.00[ASN][1000 genomes]
rs257340	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs257488	1.00[ASN][1000 genomes]
rs257491	1.00[ASN][1000 genomes]
rs257500	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147	1.00[ASN][1000 genomes]
rs35168	1.00[ASN][1000 genomes]
rs35194	1.00[ASN][1000 genomes]
rs35196	1.00[ASN][1000 genomes]
rs35201	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35202	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35211	1.00[ASN][1000 genomes]
rs35212	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35213	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35220	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35225	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35231	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35232	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369139	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399975	1.00[ASN][1000 genomes]
rs40327	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466915	1.00[ASN][1000 genomes]
rs6416687	1.00[ASN][1000 genomes]
rs6498969	1.00[ASN][1000 genomes]
rs6498970	1.00[ASN][1000 genomes]
rs6498971	1.00[ASN][1000 genomes]
rs7185314	1.00[ASN][1000 genomes]
rs7189027	1.00[ASN][1000 genomes]
rs7498207	1.00[ASN][1000 genomes]
rs7498373	1.00[ASN][1000 genomes]
rs7499444	1.00[ASN][1000 genomes]
rs7500503	1.00[ASN][1000 genomes]
rs8051995	1.00[ASN][1000 genomes]
rs8052187	1.00[ASN][1000 genomes]
rs8059900	1.00[ASN][1000 genomes]
rs891097	1.00[ASN][1000 genomes]
rs9746754	1.00[ASN][1000 genomes]
rs988878	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921084	1.00[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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64985000-65011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:64985400-65015200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:64991400-65032600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:64998000-65024800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:64998400-65014800	Weak transcription	HUVEC	blood vessel
6	chr16:64999200-65010200	Strong transcription	HSMM	muscle
7	chr16:64999200-65017800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:64999200-65017800	Strong transcription	NH-A	brain
9	chr16:65000800-65051000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:65001200-65006800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr16:65001200-65007000	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr16:65001200-65012600	Strong transcription	Fetal Lung	lung
13	chr16:65002400-65015200	Weak transcription	Left Ventricle	heart
14	chr16:65002600-65016000	Weak transcription	Brain Angular Gyrus	brain
15	chr16:65003000-65007400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:65003000-65008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:65003200-65008400	Strong transcription	NHLF	lung
18	chr16:65003400-65006800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:65003400-65034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:65003600-65006800	Strong transcription	NHDF-Ad	bronchial
21	chr16:65003800-65006600	Strong transcription	Ovary	ovary
22	chr16:65003800-65016000	Weak transcription	Brain Hippocampus Middle	brain
23	chr16:65004000-65006400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:65004000-65006600	Weak transcription	Esophagus	oesophagus
25	chr16:65004000-65006800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:65004000-65007000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:65004200-65006600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:65004200-65006600	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr16:65004200-65006600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:65004200-65006800	Strong transcription	Brain Anterior Caudate	brain
31	chr16:65004200-65006800	Strong transcription	HSMMtube	muscle
32	chr16:65004200-65007000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:65004200-65008800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:65004200-65009600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr16:65004200-65017400	Strong transcription	Osteobl	bone
36	chr16:65004400-65006600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr16:65004400-65006600	Strong transcription	HMEC	breast
38	chr16:65004400-65007000	Strong transcription	Fetal Intestine Large	intestine
39	chr16:65004400-65011800	Strong transcription	Fetal Muscle Leg	muscle
40	chr16:65004600-65013400	Weak transcription	Right Ventricle	heart
41	chr16:65004800-65009200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:65004800-65009400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:65004800-65013400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:65004800-65027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:65005000-65006600	Strong transcription	Placenta	Placenta
46	chr16:65005000-65006800	Strong transcription	Fetal Kidney	kidney
47	chr16:65005200-65006600	Strong transcription	Brain Germinal Matrix	brain
48	chr16:65005200-65006800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:65005200-65007400	Weak transcription	Fetal Brain Male	brain
50	chr16:65005200-65016000	Weak transcription	Psoas Muscle	Psoas

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