Variant report

Variant	rs7329123
Chromosome Location	chr13:80085697-80085698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80067322..80070236-chr13:80084629..80087501,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1328043	1.00[YRI][hapmap]
rs1328044	1.00[YRI][hapmap]
rs1359411	1.00[YRI][hapmap]
rs1410331	1.00[YRI][hapmap]
rs1410333	1.00[YRI][hapmap]
rs1752645	0.82[YRI][hapmap]
rs1980882	1.00[YRI][hapmap]
rs4884128	1.00[YRI][hapmap]
rs55666614	1.00[AFR][1000 genomes]
rs55792085	1.00[AFR][1000 genomes]
rs55891445	1.00[AFR][1000 genomes]
rs56000157	1.00[AFR][1000 genomes]
rs56001080	0.86[AFR][1000 genomes]
rs56094697	0.81[AFR][1000 genomes]
rs56226041	1.00[AFR][1000 genomes]
rs56306982	1.00[AFR][1000 genomes]
rs57490018	0.86[AFR][1000 genomes]
rs57600509	1.00[AFR][1000 genomes]
rs58459258	1.00[AFR][1000 genomes]
rs58541620	0.94[AFR][1000 genomes]
rs59301166	0.97[AFR][1000 genomes]
rs59612159	1.00[AFR][1000 genomes]
rs60000770	0.94[AFR][1000 genomes]
rs60351256	0.86[AFR][1000 genomes]
rs60492571	1.00[AFR][1000 genomes]
rs61417351	0.94[AFR][1000 genomes]
rs61665951	1.00[AFR][1000 genomes]
rs6563099	1.00[YRI][hapmap]
rs6563103	1.00[YRI][hapmap]
rs6563108	1.00[YRI][hapmap]
rs7317607	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7317825	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7320542	0.94[AFR][1000 genomes]
rs7320662	0.94[AFR][1000 genomes]
rs7324725	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7325772	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7328114	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7331575	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7332746	1.00[AFR][1000 genomes]
rs7333101	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7333651	1.00[YRI][hapmap]
rs7336820	1.00[AFR][1000 genomes]
rs74098263	1.00[AFR][1000 genomes]
rs74098277	1.00[AFR][1000 genomes]
rs74098284	0.94[AFR][1000 genomes]
rs74098285	0.94[AFR][1000 genomes]
rs74098303	0.94[AFR][1000 genomes]
rs74098304	0.94[AFR][1000 genomes]
rs74098307	0.94[AFR][1000 genomes]
rs74100706	1.00[AFR][1000 genomes]
rs74100709	1.00[AFR][1000 genomes]
rs74100720	1.00[AFR][1000 genomes]
rs74100721	1.00[AFR][1000 genomes]
rs74100740	1.00[AFR][1000 genomes]
rs74100743	1.00[AFR][1000 genomes]
rs74100756	0.94[AFR][1000 genomes]
rs74100758	0.94[AFR][1000 genomes]
rs7981807	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7983606	1.00[YRI][hapmap]
rs7983730	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7984241	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7991933	1.00[AFR][1000 genomes]
rs7993478	1.00[YRI][hapmap]
rs7994560	1.00[YRI][hapmap]
rs8001089	1.00[YRI][hapmap]
rs9318630	1.00[YRI][hapmap]
rs9318631	1.00[YRI][hapmap]
rs9318637	1.00[YRI][hapmap]
rs9545084	1.00[YRI][hapmap]
rs9545096	1.00[YRI][hapmap]
rs9601212	1.00[YRI][hapmap]

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:35 , 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	chr13:80078200-80088600	Weak transcription	Fetal Heart	heart
12	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
13	chr13:80078800-80085800	Enhancers	Dnd41	blood
14	chr13:80079600-80086600	Weak transcription	Gastric	stomach
15	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:80082800-80092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:80082800-80096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:80082800-80096600	Weak transcription	Lung	lung
19	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:80083000-80087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:80083000-80088800	Weak transcription	Small Intestine	intestine
22	chr13:80083000-80095200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
25	chr13:80083200-80095000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:80083200-80095000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:80083400-80087200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:80083400-80092200	Weak transcription	NHEK	skin
29	chr13:80083400-80093000	Weak transcription	Right Atrium	heart
30	chr13:80083400-80096200	Weak transcription	Left Ventricle	heart
31	chr13:80084600-80087400	Enhancers	Pancreas	Pancrea
32	chr13:80085000-80093000	Weak transcription	Fetal Intestine Small	intestine
33	chr13:80085000-80096800	Weak transcription	Primary T cells from cord blood	blood
34	chr13:80085200-80087400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:80085600-80086200	Enhancers	Pancreatic Islets	Pancreatic Islet

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