Variant report

Variant	rs72808959
Chromosome Location	chr5:115665539-115665540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
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];0.91[ASN][1000 genomes]
rs17139532	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55663230	0.87[ASN][1000 genomes]
rs55742067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55857351	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56317742	0.87[ASN][1000 genomes]
rs56370685	0.87[ASN][1000 genomes]
rs57209700	0.88[ASN][1000 genomes]
rs57659470	0.90[EUR][1000 genomes]
rs66783056	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs67139169	0.90[EUR][1000 genomes]
rs67339497	0.88[EUR][1000 genomes]
rs67412230	0.93[EUR][1000 genomes]
rs72804873	0.85[EUR][1000 genomes]
rs72804875	0.85[EUR][1000 genomes]
rs72804882	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72804884	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72804885	0.85[EUR][1000 genomes]
rs72804889	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72804891	0.85[EUR][1000 genomes]
rs72804893	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72804896	0.87[EUR][1000 genomes]
rs72804899	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72804900	0.85[EUR][1000 genomes]
rs72806907	0.82[EUR][1000 genomes]
rs72806908	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72806910	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72806917	0.87[EUR][1000 genomes]
rs72806919	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72806920	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72806923	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72808929	0.92[EUR][1000 genomes]
rs72808930	0.92[EUR][1000 genomes]
rs72808931	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72808932	0.92[EUR][1000 genomes]
rs72808934	0.97[EUR][1000 genomes]
rs72808943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72808949	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72808960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808961	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808964	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808969	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808973	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808977	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72808978	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	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
7	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115643200-115669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
4	chr5:115652000-115668000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:115653000-115667400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:115653600-115670400	Weak transcription	Right Ventricle	heart
7	chr5:115654600-115669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:115655400-115669800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:115656400-115666400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:115659200-115669600	Weak transcription	Fetal Kidney	kidney
11	chr5:115663200-115671000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:115663800-115665800	Strong transcription	Primary T cells from cord blood	blood
13	chr5:115663800-115666000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:115663800-115666400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:115663800-115666800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr5:115663800-115667000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:115664000-115666200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr5:115664200-115665600	ZNF genes & repeats	Dnd41	blood
19	chr5:115664200-115666400	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr5:115664400-115665600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
21	chr5:115664400-115666800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:115664600-115665600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:115664600-115665600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:115664600-115666000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr5:115664600-115671600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:115664800-115665600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:115664800-115665800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr5:115664800-115666400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:115664800-115666800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr5:115664800-115669600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:115665000-115666400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr5:115665000-115666600	ZNF genes & repeats	Liver	Liver
33	chr5:115665200-115671800	Weak transcription	Ovary	ovary
34	chr5:115665400-115666200	Weak transcription	Adipose Nuclei	Adipose
35	chr5:115665400-115669400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:115665400-115669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:115665400-115669600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:115665400-115669600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:115665400-115669600	Weak transcription	Aorta	Aorta
40	chr5:115665400-115669600	Weak transcription	Pancreas	Pancrea
41	chr5:115665400-115669600	Weak transcription	Thymus	Thymus

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