Variant report

Variant	rs12601388
Chromosome Location	chr17:67136143-67136144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10775358	0.83[ASN][1000 genomes]
rs10775359	0.83[ASN][1000 genomes]
rs1158495	0.83[ASN][1000 genomes]
rs11652530	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11656539	0.83[ASN][1000 genomes]
rs12162136	0.82[EUR][1000 genomes]
rs12453914	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12939282	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12940298	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12952117	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12953127	0.85[ASN][1000 genomes]
rs1558166	0.86[ASN][1000 genomes]
rs16973567	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968100	0.85[ASN][1000 genomes]
rs1974576	0.86[ASN][1000 genomes]
rs1974577	0.86[ASN][1000 genomes]
rs1990335	0.82[EUR][1000 genomes]
rs2041170	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041171	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108738	0.83[ASN][1000 genomes]
rs2190900	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215148	0.86[ASN][1000 genomes]
rs2364986	0.86[ASN][1000 genomes]
rs2364993	0.83[ASN][1000 genomes]
rs3744489	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4141177	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4334355	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577157	0.84[ASN][1000 genomes]
rs4603621	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968785	0.86[ASN][1000 genomes]
rs4968838	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968839	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968843	0.86[ASN][1000 genomes]
rs4968849	0.84[ASN][1000 genomes]
rs4968851	0.85[ASN][1000 genomes]
rs5025273	0.83[EUR][1000 genomes]
rs6501183	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7207609	0.82[EUR][1000 genomes]
rs7208586	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7210259	0.85[ASN][1000 genomes]
rs7213831	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7214079	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7216899	0.84[ASN][1000 genomes]
rs7217887	0.85[ASN][1000 genomes]
rs740518	0.86[ASN][1000 genomes]
rs740520	0.83[ASN][1000 genomes]
rs7503217	0.82[EUR][1000 genomes]
rs8064595	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8074654	0.85[ASN][1000 genomes]
rs8077252	0.82[EUR][1000 genomes]
rs8077551	0.86[ASN][1000 genomes]
rs8078314	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8079981	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8080863	0.86[ASN][1000 genomes]
rs8081003	0.80[ASN][1000 genomes]
rs9303012	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs976698	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs981452	0.86[ASN][1000 genomes]
rs9892172	0.85[ASN][1000 genomes]
rs9898868	0.85[ASN][1000 genomes]
rs9899837	0.85[ASN][1000 genomes]
rs9902643	0.85[ASN][1000 genomes]
rs9904672	0.85[ASN][1000 genomes]
rs9916084	0.83[ASN][1000 genomes]
rs9916693	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997781	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	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
5	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:38 , 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	chr17:67123800-67136400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:67124600-67137600	Weak transcription	Fetal Stomach	stomach
10	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:67127000-67143400	Weak transcription	Fetal Intestine Large	intestine
12	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:67127200-67138000	Weak transcription	Stomach Mucosa	stomach
14	chr17:67127600-67137800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:67128200-67137200	Weak transcription	Brain Substantia Nigra	brain
16	chr17:67129800-67137000	Weak transcription	Fetal Brain Male	brain
17	chr17:67130600-67146200	Weak transcription	Lung	lung
18	chr17:67132000-67137800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr17:67132200-67137600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:67132200-67137600	Weak transcription	Brain Hippocampus Middle	brain
22	chr17:67132200-67137600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr17:67132200-67137800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:67132400-67136800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:67133800-67145600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr17:67134400-67136200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:67134400-67136200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:67134400-67136200	Weak transcription	Adipose Nuclei	Adipose
29	chr17:67134400-67136200	Weak transcription	Liver	Liver
30	chr17:67134400-67136200	Weak transcription	Ovary	ovary
31	chr17:67134400-67136400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:67134400-67136600	Weak transcription	NHDF-Ad	bronchial
33	chr17:67134400-67136800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:67134400-67138000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:67134400-67143400	Weak transcription	Left Ventricle	heart
36	chr17:67134600-67136600	Weak transcription	Fetal Lung	lung
37	chr17:67134600-67137000	Weak transcription	Fetal Muscle Leg	muscle
38	chr17:67134600-67145000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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