Variant report

Variant	rs17071532
Chromosome Location	chr13:80088683-80088684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10492579	1.00[EUR][1000 genomes]
rs10507898	1.00[CEU][hapmap]
rs10507899	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1335373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1414157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071233	1.00[CEU][hapmap]
rs17071247	1.00[CEU][hapmap]
rs17071257	1.00[CEU][hapmap]
rs17071385	1.00[CEU][hapmap]
rs17071415	1.00[CEU][hapmap]
rs17071499	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071549	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17071558	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071566	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071574	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071585	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071627	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17071632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41288268	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56711390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57032852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57929179	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58056613	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58069884	0.82[EUR][1000 genomes]
rs58406632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59165380	0.89[EUR][1000 genomes]
rs59381369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59755477	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs59783325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60126328	0.92[EUR][1000 genomes]
rs61318325	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61676417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563107	1.00[CEU][hapmap]
rs6563117	1.00[CEU][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7317511	1.00[EUR][1000 genomes]
rs7318854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7327148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329633	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7331979	1.00[CEU][hapmap]
rs7335191	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7338043	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73548951	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73548955	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551558	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553403	1.00[EUR][1000 genomes]
rs73553418	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553448	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555409	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7491258	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7981574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7984159	0.92[EUR][1000 genomes]
rs7984598	0.88[EUR][1000 genomes]
rs7985220	0.82[EUR][1000 genomes]
rs7985697	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7990190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992181	1.00[CEU][hapmap]
rs7997554	1.00[CEU][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7998452	1.00[EUR][1000 genomes]
rs8000870	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80067200-80095000	Weak transcription	HSMM	muscle
3	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
5	chr13:80076200-80093200	Weak transcription	HMEC	breast
6	chr13:80077600-80088800	Weak transcription	Brain Angular Gyrus	brain
7	chr13:80077600-80095600	Weak transcription	Fetal Intestine Large	intestine
8	chr13:80077800-80089000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
10	chr13:80078000-80097800	Weak transcription	Ovary	ovary
11	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
12	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:80082800-80092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:80082800-80096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr13:80082800-80096600	Weak transcription	Lung	lung
16	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:80083000-80088800	Weak transcription	Small Intestine	intestine
18	chr13:80083000-80095200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
21	chr13:80083200-80095000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:80083200-80095000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:80083400-80092200	Weak transcription	NHEK	skin
24	chr13:80083400-80093000	Weak transcription	Right Atrium	heart
25	chr13:80083400-80096200	Weak transcription	Left Ventricle	heart
26	chr13:80085000-80093000	Weak transcription	Fetal Intestine Small	intestine
27	chr13:80085000-80096800	Weak transcription	Primary T cells from cord blood	blood
28	chr13:80086000-80090800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:80086200-80091000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:80086800-80098400	Weak transcription	Brain Substantia Nigra	brain
31	chr13:80087000-80095000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr13:80087400-80090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr13:80087400-80092800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:80087400-80093800	Enhancers	Dnd41	blood
35	chr13:80087400-80095200	Weak transcription	Liver	Liver
36	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
37	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
38	chr13:80087800-80095000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:80087800-80096600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr13:80088000-80089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:80088000-80089800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:80088000-80095200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr13:80088600-80089400	Enhancers	Brain Hippocampus Middle	brain
44	chr13:80088600-80091600	Enhancers	Fetal Heart	heart

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