Variant report

Variant	rs8078314
Chromosome Location	chr17:67137247-67137248
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10775358	0.82[ASN][1000 genomes]
rs10775359	0.82[ASN][1000 genomes]
rs1158495	0.82[ASN][1000 genomes]
rs11652530	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11656539	0.82[ASN][1000 genomes]
rs12162136	0.84[EUR][1000 genomes]
rs12453914	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12601388	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12939282	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12940298	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12952117	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12953127	0.84[ASN][1000 genomes]
rs1558166	0.86[ASN][1000 genomes]
rs16973567	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968100	0.84[ASN][1000 genomes]
rs1974576	0.86[ASN][1000 genomes]
rs1974577	0.86[ASN][1000 genomes]
rs1990335	0.84[EUR][1000 genomes]
rs2041170	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041171	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108738	0.82[ASN][1000 genomes]
rs2190900	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2215148	0.85[ASN][1000 genomes]
rs2364986	0.86[ASN][1000 genomes]
rs2364993	0.82[ASN][1000 genomes]
rs3744489	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4141177	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4334355	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577157	0.83[ASN][1000 genomes]
rs4603621	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968785	0.86[ASN][1000 genomes]
rs4968838	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968839	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968843	0.86[ASN][1000 genomes]
rs4968849	0.83[ASN][1000 genomes]
rs4968851	0.84[ASN][1000 genomes]
rs5025273	0.85[EUR][1000 genomes]
rs6501183	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7207609	0.84[EUR][1000 genomes]
rs7208586	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7210259	0.84[ASN][1000 genomes]
rs7213831	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7214079	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7216899	0.83[ASN][1000 genomes]
rs7217887	0.84[ASN][1000 genomes]
rs740518	0.86[ASN][1000 genomes]
rs740520	0.82[ASN][1000 genomes]
rs7503217	0.84[EUR][1000 genomes]
rs8064595	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8074654	0.84[ASN][1000 genomes]
rs8077252	0.84[EUR][1000 genomes]
rs8077551	0.86[ASN][1000 genomes]
rs8079981	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8080863	0.86[ASN][1000 genomes]
rs9303012	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976698	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs981452	0.86[ASN][1000 genomes]
rs9892172	0.84[ASN][1000 genomes]
rs9898868	0.84[ASN][1000 genomes]
rs9899837	0.84[ASN][1000 genomes]
rs9902643	0.84[ASN][1000 genomes]
rs9904672	0.84[ASN][1000 genomes]
rs9916084	0.82[ASN][1000 genomes]
rs9916693	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs997781	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
3	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
4	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
5	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
6	chr17:67120000-67138000	Weak transcription	Small Intestine	intestine
7	chr17:67121800-67137800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:67124600-67137600	Weak transcription	Fetal Stomach	stomach
9	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:67127000-67143400	Weak transcription	Fetal Intestine Large	intestine
11	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:67127200-67138000	Weak transcription	Stomach Mucosa	stomach
13	chr17:67127600-67137800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr17:67130600-67146200	Weak transcription	Lung	lung
15	chr17:67132000-67137800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:67132200-67137600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:67132200-67137600	Weak transcription	Brain Hippocampus Middle	brain
19	chr17:67132200-67137600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:67132200-67137800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:67133800-67145600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr17:67134400-67138000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:67134400-67143400	Weak transcription	Left Ventricle	heart
24	chr17:67134600-67145000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:67136200-67137600	Active TSS	Adipose Nuclei	Adipose
26	chr17:67136200-67137800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:67136200-67138800	Active TSS	Ovary	ovary
28	chr17:67136200-67138800	Active TSS	Right Atrium	heart
29	chr17:67136200-67139000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:67136400-67138000	Active TSS	Liver	Liver
31	chr17:67136400-67138800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:67136600-67137400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr17:67136600-67138000	Active TSS	NHDF-Ad	bronchial
34	chr17:67136600-67138200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:67136600-67138600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr17:67136600-67138800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:67136600-67138800	Active TSS	Fetal Lung	lung
38	chr17:67136800-67138800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:67136800-67138800	Active TSS	Stomach Smooth Muscle	stomach
40	chr17:67137000-67137400	Active TSS	Fetal Brain Male	brain
41	chr17:67137000-67137400	Active TSS	Osteobl	bone
42	chr17:67137000-67137600	Active TSS	HUVEC	blood vessel
43	chr17:67137000-67137600	Active TSS	NHLF	lung
44	chr17:67137000-67138200	Active TSS	Fetal Muscle Leg	muscle
45	chr17:67137200-67138400	Active TSS	Colon Smooth Muscle	Colon
46	chr17:67137200-67138600	Active TSS	Brain Substantia Nigra	brain

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