Variant report

Variant	rs73264968
Chromosome Location	chr5:115669668-115669669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10519460	1.00[EUR][1000 genomes]
rs1073205	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948686	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139530	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139552	0.92[EUR][1000 genomes]
rs17139556	1.00[EUR][1000 genomes]
rs17139565	1.00[EUR][1000 genomes]
rs17139591	1.00[EUR][1000 genomes]
rs17500032	1.00[ASN][1000 genomes]
rs1842003	1.00[ASN][1000 genomes]
rs1842004	1.00[ASN][1000 genomes]
rs4920909	0.89[ASN][1000 genomes]
rs4920911	1.00[ASN][1000 genomes]
rs4920912	1.00[ASN][1000 genomes]
rs4920913	1.00[ASN][1000 genomes]
rs4920914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921092	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921093	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4921095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55702251	1.00[EUR][1000 genomes]
rs55817922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56947773	1.00[EUR][1000 genomes]
rs57067978	1.00[EUR][1000 genomes]
rs57362825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59570866	1.00[EUR][1000 genomes]
rs59951603	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60052990	1.00[ASN][1000 genomes]
rs6594962	1.00[ASN][1000 genomes]
rs6594964	1.00[EUR][1000 genomes]
rs6594965	1.00[EUR][1000 genomes]
rs6861340	1.00[ASN][1000 genomes]
rs6874012	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893543	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6893952	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73261067	0.89[ASN][1000 genomes]
rs73263060	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263082	1.00[ASN][1000 genomes]
rs73263087	1.00[ASN][1000 genomes]
rs73266811	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781050	1.00[EUR][1000 genomes]
rs7701174	0.89[ASN][1000 genomes]
rs7705979	1.00[EUR][1000 genomes]
rs7716629	1.00[EUR][1000 genomes]
rs7716923	1.00[EUR][1000 genomes]
rs7734398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737229	0.96[EUR][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:47 , 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	chr5:115653600-115670400	Weak transcription	Right Ventricle	heart
5	chr5:115655400-115669800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:115663200-115671000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:115664600-115671600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:115665200-115671800	Weak transcription	Ovary	ovary
9	chr5:115665600-115670400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:115665800-115671000	Weak transcription	Primary T cells from cord blood	blood
11	chr5:115666400-115669800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:115666400-115670000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:115666600-115669800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:115666800-115669800	Weak transcription	Fetal Lung	lung
15	chr5:115666800-115683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:115668400-115671400	Weak transcription	Stomach Mucosa	stomach
17	chr5:115668800-115670600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr5:115668800-115670800	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr5:115668800-115671000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:115669200-115670400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr5:115669400-115670400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr5:115669400-115670800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:115669600-115669800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:115669600-115669800	Strong transcription	Pancreas	Pancrea
25	chr5:115669600-115670000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:115669600-115670000	Strong transcription	Dnd41	blood
27	chr5:115669600-115670200	ZNF genes & repeats	Liver	Liver
28	chr5:115669600-115670200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr5:115669600-115670200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:115669600-115670200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr5:115669600-115670400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr5:115669600-115670400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:115669600-115670400	ZNF genes & repeats	Aorta	Aorta
34	chr5:115669600-115670400	Strong transcription	Fetal Kidney	kidney
35	chr5:115669600-115670400	ZNF genes & repeats	Left Ventricle	heart
36	chr5:115669600-115670600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr5:115669600-115670600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:115669600-115670600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:115669600-115670600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:115669600-115670600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr5:115669600-115670600	ZNF genes & repeats	Placenta	Placenta
42	chr5:115669600-115670600	ZNF genes & repeats	Gastric	stomach
43	chr5:115669600-115670600	ZNF genes & repeats	Thymus	Thymus
44	chr5:115669600-115670600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr5:115669600-115670800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:115669600-115670800	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr5:115669600-115670800	ZNF genes & repeats	Esophagus	oesophagus

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