Variant report

Variant	rs7730105
Chromosome Location	chr5:119791966-119791967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12654459	0.90[EUR][1000 genomes]
rs12656625	0.90[EUR][1000 genomes]
rs12656626	0.90[EUR][1000 genomes]
rs12658673	0.91[EUR][1000 genomes]
rs12659480	0.89[EUR][1000 genomes]
rs1368190	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1432455	0.90[EUR][1000 genomes]
rs1432462	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432463	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503929	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146602	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146628	0.86[ASN][1000 genomes]
rs17146632	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146635	0.84[EUR][1000 genomes]
rs17421780	0.88[EUR][1000 genomes]
rs17422211	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17422462	0.93[EUR][1000 genomes]
rs17424128	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17481046	0.88[EUR][1000 genomes]
rs17488124	0.93[EUR][1000 genomes]
rs17489056	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17489517	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17489671	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489720	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897457	0.89[EUR][1000 genomes]
rs2053007	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2116607	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2116608	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2163674	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4895155	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4895243	0.89[EUR][1000 genomes]
rs4895244	0.89[EUR][1000 genomes]
rs56398366	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57401201	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58699148	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58831848	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249515	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61113370	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595233	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6650983	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6884101	0.89[EUR][1000 genomes]
rs72784167	0.86[AFR][1000 genomes]
rs72784168	0.88[EUR][1000 genomes]
rs72784169	0.88[EUR][1000 genomes]
rs72784172	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72784173	0.90[EUR][1000 genomes]
rs72784175	0.89[EUR][1000 genomes]
rs72784183	0.91[EUR][1000 genomes]
rs72784184	0.91[EUR][1000 genomes]
rs72784190	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72784191	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72784195	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72784197	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72784200	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72784201	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72784202	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72786208	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786214	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786216	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786223	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72786224	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786226	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786229	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786237	1.00[ASN][1000 genomes]
rs7734475	0.81[AMR][1000 genomes];0.87[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:31 , 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	chr5:119787400-119793000	Weak transcription	Pancreas	Pancrea
6	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
7	chr5:119788800-119794000	Enhancers	Fetal Heart	heart
8	chr5:119790400-119793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:119790400-119793600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:119790400-119793600	Weak transcription	Aorta	Aorta
11	chr5:119790400-119793800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:119790400-119793800	Weak transcription	Fetal Kidney	kidney
13	chr5:119790400-119799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:119790600-119793400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:119790600-119793800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:119790600-119793800	Weak transcription	NHLF	lung
17	chr5:119790800-119793400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:119790800-119793800	Weak transcription	Osteobl	bone
19	chr5:119791000-119793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:119791000-119793600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:119791000-119793600	Weak transcription	Left Ventricle	heart
22	chr5:119791000-119793800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:119791000-119794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:119791200-119792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:119791200-119793200	Weak transcription	HSMMtube	muscle
26	chr5:119791200-119793600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:119791200-119793800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:119791200-119793800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:119791200-119793800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:119791200-119793800	Weak transcription	NHDF-Ad	bronchial
31	chr5:119791800-119792800	Enhancers	Fetal Lung	lung

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