Variant report

Variant	rs72808960
Chromosome Location	chr5:115670395-115670396
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:65)

rs_ID	r²[population]
rs10519452	0.88[EUR][1000 genomes]
rs17139251	0.87[EUR][1000 genomes]
rs17139524	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17139532	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55663230	0.88[ASN][1000 genomes]
rs55742067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55857351	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56317742	0.88[ASN][1000 genomes]
rs56370685	0.88[ASN][1000 genomes]
rs57209700	0.90[ASN][1000 genomes]
rs57659470	0.90[EUR][1000 genomes]
rs58424191	0.80[ASN][1000 genomes]
rs66783056	0.87[EUR][1000 genomes]
rs67139169	0.90[EUR][1000 genomes]
rs67339497	0.88[EUR][1000 genomes]
rs67412230	0.93[EUR][1000 genomes]
rs72804882	0.85[EUR][1000 genomes]
rs72804884	0.85[EUR][1000 genomes]
rs72804885	0.85[EUR][1000 genomes]
rs72804889	0.87[EUR][1000 genomes]
rs72804891	0.85[EUR][1000 genomes]
rs72804893	0.85[EUR][1000 genomes]
rs72804896	0.87[EUR][1000 genomes]
rs72804899	0.87[EUR][1000 genomes]
rs72804900	0.85[EUR][1000 genomes]
rs72806907	0.82[EUR][1000 genomes]
rs72806908	0.87[EUR][1000 genomes]
rs72806910	0.85[EUR][1000 genomes]
rs72806917	0.87[EUR][1000 genomes]
rs72806919	0.87[EUR][1000 genomes]
rs72806920	0.87[EUR][1000 genomes]
rs72806923	0.87[EUR][1000 genomes]
rs72806926	0.87[EUR][1000 genomes]
rs72806927	0.87[EUR][1000 genomes]
rs72806930	0.92[EUR][1000 genomes]
rs72806931	0.92[EUR][1000 genomes]
rs72806933	0.92[EUR][1000 genomes]
rs72806937	0.92[EUR][1000 genomes]
rs72806941	0.92[EUR][1000 genomes]
rs72806944	0.92[EUR][1000 genomes]
rs72808904	0.92[EUR][1000 genomes]
rs72808909	0.92[EUR][1000 genomes]
rs72808912	0.92[EUR][1000 genomes]
rs72808917	0.92[EUR][1000 genomes]
rs72808922	0.92[EUR][1000 genomes]
rs72808927	0.92[EUR][1000 genomes]
rs72808928	0.92[EUR][1000 genomes]
rs72808929	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72808930	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72808931	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72808932	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72808934	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72808943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808949	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72808952	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72808958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72808964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72808969	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808973	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808977	0.82[ASN][1000 genomes]
rs72808978	0.85[ASN][1000 genomes]
rs7729344	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
3	chr5:115653600-115670400	Weak transcription	Right Ventricle	heart
4	chr5:115663200-115671000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:115664600-115671600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:115665200-115671800	Weak transcription	Ovary	ovary
7	chr5:115665600-115670400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:115665800-115671000	Weak transcription	Primary T cells from cord blood	blood
9	chr5:115666800-115683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:115668400-115671400	Weak transcription	Stomach Mucosa	stomach
11	chr5:115668800-115670600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr5:115668800-115670800	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr5:115668800-115671000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:115669200-115670400	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr5:115669400-115670400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr5:115669400-115670800	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:115669600-115670400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr5:115669600-115670400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:115669600-115670400	ZNF genes & repeats	Aorta	Aorta
20	chr5:115669600-115670400	Strong transcription	Fetal Kidney	kidney
21	chr5:115669600-115670400	ZNF genes & repeats	Left Ventricle	heart
22	chr5:115669600-115670600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr5:115669600-115670600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:115669600-115670600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:115669600-115670600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:115669600-115670600	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr5:115669600-115670600	ZNF genes & repeats	Placenta	Placenta
28	chr5:115669600-115670600	ZNF genes & repeats	Gastric	stomach
29	chr5:115669600-115670600	ZNF genes & repeats	Thymus	Thymus
30	chr5:115669600-115670600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr5:115669600-115670800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:115669600-115670800	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:115669600-115670800	ZNF genes & repeats	Esophagus	oesophagus
34	chr5:115669800-115670400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr5:115669800-115670600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr5:115669800-115670800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:115669800-115670800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:115669800-115670800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:115669800-115670800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:115669800-115670800	ZNF genes & repeats	Pancreas	Pancrea
41	chr5:115670000-115670400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr5:115670000-115670600	ZNF genes & repeats	Colonic Mucosa	Colon
43	chr5:115670000-115670800	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr5:115670000-115670800	Weak transcription	Fetal Lung	lung
45	chr5:115670000-115670800	ZNF genes & repeats	Dnd41	blood
46	chr5:115670200-115670800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr5:115670200-115670800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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