Variant report

Variant	rs740518
Chromosome Location	chr17:67147580-67147581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10775358	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10775359	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1158495	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11652530	0.86[ASN][1000 genomes]
rs11656539	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12453914	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12601388	0.86[ASN][1000 genomes]
rs12939282	0.86[ASN][1000 genomes]
rs12940298	0.86[ASN][1000 genomes]
rs12952117	0.85[ASN][1000 genomes]
rs12953127	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1558166	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968100	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974576	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974577	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041170	0.86[ASN][1000 genomes]
rs2041171	0.86[ASN][1000 genomes]
rs2108738	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190900	0.86[ASN][1000 genomes]
rs2215148	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364986	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364993	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3744489	0.84[ASN][1000 genomes]
rs4334355	0.86[ASN][1000 genomes]
rs4577157	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4603621	0.85[ASN][1000 genomes]
rs4968785	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968838	0.87[ASN][1000 genomes]
rs4968839	0.85[ASN][1000 genomes]
rs4968843	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968849	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968851	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6501183	0.86[ASN][1000 genomes]
rs7208586	0.86[ASN][1000 genomes]
rs7210259	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7213831	0.85[ASN][1000 genomes]
rs7216899	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7217887	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs740520	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8064595	0.86[ASN][1000 genomes]
rs8066449	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8074654	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8077551	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078314	0.86[ASN][1000 genomes]
rs8079981	0.85[ASN][1000 genomes]
rs8080863	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081003	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303012	0.84[ASN][1000 genomes]
rs976698	0.84[ASN][1000 genomes]
rs981452	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891283	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9892172	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9894689	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9898868	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9899837	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9902643	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9902996	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9904672	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9909083	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9911770	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9912127	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9916084	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9916693	0.87[ASN][1000 genomes]
rs997781	0.86[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
2	chr17:67124800-67150000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:67127000-67150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:67132000-67151600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:67138000-67154000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr17:67138200-67150600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:67138200-67151200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:67138200-67151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:67138200-67152200	Weak transcription	Fetal Muscle Leg	muscle
10	chr17:67138600-67147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:67138600-67155400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:67138800-67152000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:67138800-67162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:67138800-67182000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:67140200-67154000	Weak transcription	Fetal Lung	lung
16	chr17:67141600-67155400	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:67141800-67171800	Weak transcription	GM12878-XiMat	blood
18	chr17:67142000-67148800	Weak transcription	NHDF-Ad	bronchial
19	chr17:67142200-67152400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:67142400-67151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:67143800-67154200	Weak transcription	Right Ventricle	heart
22	chr17:67144000-67148600	Weak transcription	Spleen	Spleen
23	chr17:67144000-67151600	Weak transcription	Fetal Intestine Large	intestine
24	chr17:67144000-67163200	Weak transcription	Left Ventricle	heart
25	chr17:67144000-67175800	Weak transcription	Gastric	stomach
26	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
27	chr17:67144800-67150400	Strong transcription	Liver	Liver
28	chr17:67145000-67150200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:67145800-67147800	Weak transcription	Adipose Nuclei	Adipose
30	chr17:67146000-67147600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr17:67146000-67148400	Weak transcription	Pancreas	Pancrea
32	chr17:67146800-67148800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:67147400-67147600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr17:67147400-67148200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr17:67147400-67148400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:67147400-67150800	Strong transcription	Ovary	ovary

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