Variant report

Variant	rs72786229
Chromosome Location	chr5:119790413-119790414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1368190	0.83[EUR][1000 genomes]
rs1432462	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432463	1.00[ASN][1000 genomes]
rs1503926	0.80[AFR][1000 genomes]
rs1503928	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503929	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146602	0.84[EUR][1000 genomes]
rs17146628	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17146632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146635	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17146644	0.85[EUR][1000 genomes]
rs17422462	0.82[EUR][1000 genomes]
rs17424128	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17488124	0.82[EUR][1000 genomes]
rs17489056	0.83[EUR][1000 genomes]
rs17489517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17489671	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116608	0.83[EUR][1000 genomes]
rs56398366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57401201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58699148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58831848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249515	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61113370	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595233	0.83[EUR][1000 genomes]
rs6650983	0.83[EUR][1000 genomes]
rs66523245	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784190	0.84[EUR][1000 genomes]
rs72784191	0.85[EUR][1000 genomes]
rs72784195	0.84[EUR][1000 genomes]
rs72784197	0.86[EUR][1000 genomes]
rs72784200	0.84[EUR][1000 genomes]
rs72784201	0.83[EUR][1000 genomes]
rs72784202	0.89[EUR][1000 genomes]
rs72786208	0.86[EUR][1000 genomes]
rs72786214	0.83[EUR][1000 genomes]
rs72786216	0.83[EUR][1000 genomes]
rs72786223	0.86[EUR][1000 genomes]
rs72786224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786225	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786226	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786237	1.00[ASN][1000 genomes]
rs73783447	0.80[AFR][1000 genomes]
rs73785931	0.82[AFR][1000 genomes]
rs7730105	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119783000-119793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:119786200-119793600	Weak transcription	Right Ventricle	heart
3	chr5:119786200-119793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:119787000-119798200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119787400-119790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:119787400-119793000	Weak transcription	Pancreas	Pancrea
7	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
8	chr5:119787600-119791000	Enhancers	HSMM	muscle
9	chr5:119788800-119790600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:119788800-119794000	Enhancers	Fetal Heart	heart
11	chr5:119789200-119791000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:119789200-119791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:119789200-119791200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:119789400-119790800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:119789600-119791000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:119789800-119790600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:119789800-119790800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:119789800-119790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:119789800-119790800	Enhancers	Fetal Lung	lung
20	chr5:119790000-119790600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:119790000-119790600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:119790000-119790600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:119790000-119790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr5:119790000-119790600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:119790000-119790600	Enhancers	NH-A	brain
26	chr5:119790000-119790600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr5:119790000-119790600	Enhancers	NHLF	lung
28	chr5:119790000-119790600	Flanking Active TSS	Osteobl	bone
29	chr5:119790000-119790800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:119790000-119790800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:119790200-119790600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:119790200-119790600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:119790200-119790800	Active TSS	HSMMtube	muscle
34	chr5:119790400-119793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:119790400-119793600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:119790400-119793600	Weak transcription	Aorta	Aorta
37	chr5:119790400-119793800	Weak transcription	Adipose Nuclei	Adipose
38	chr5:119790400-119793800	Weak transcription	Fetal Kidney	kidney
39	chr5:119790400-119799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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