Variant report

Variant	rs1432457
Chromosome Location	chr5:119781569-119781570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10036322	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10036536	0.81[EUR][1000 genomes]
rs10478464	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12109029	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12523485	1.00[CHD][hapmap]
rs13158141	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161485	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171950	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172224	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357775	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13359009	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1347070	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1368189	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1394115	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1432454	0.81[EUR][1000 genomes]
rs1432461	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1432464	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1524558	1.00[CHD][hapmap]
rs17146501	0.80[EUR][1000 genomes]
rs1835870	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2077726	1.00[CHD][hapmap]
rs2082353	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2082356	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2116606	0.81[AMR][1000 genomes]
rs2897244	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35399227	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4895246	0.81[EUR][1000 genomes]
rs4895247	0.84[EUR][1000 genomes]
rs4895248	0.84[EUR][1000 genomes]
rs4895249	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895250	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895253	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59264625	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59336675	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6595225	0.81[EUR][1000 genomes]
rs6595232	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6865215	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6878266	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6895493	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7379429	0.81[EUR][1000 genomes]
rs7446731	0.90[EUR][1000 genomes]
rs753641	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7701804	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7709140	0.84[EUR][1000 genomes]
rs7714965	0.83[EUR][1000 genomes]
rs7718509	0.80[EUR][1000 genomes]
rs7722765	0.84[EUR][1000 genomes]
rs7727978	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9327142	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs982827	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119777400-119784000	Enhancers	Fetal Heart	heart
2	chr5:119777800-119785200	Weak transcription	Psoas Muscle	Psoas
3	chr5:119779600-119783600	Weak transcription	Aorta	Aorta
4	chr5:119780400-119782000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:119780800-119782000	Enhancers	NHDF-Ad	bronchial
7	chr5:119780800-119784200	Enhancers	HUVEC	blood vessel
8	chr5:119780800-119786200	Enhancers	HSMM	muscle
9	chr5:119781000-119782000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:119781000-119782000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119781000-119783800	Enhancers	NHLF	lung
12	chr5:119781000-119784000	Enhancers	NH-A	brain
13	chr5:119781000-119784000	Enhancers	Osteobl	bone
14	chr5:119781000-119784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
16	chr5:119781200-119781600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:119781200-119781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:119781200-119782400	Enhancers	HMEC	breast
19	chr5:119781200-119782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:119781200-119783000	Enhancers	Fetal Lung	lung
21	chr5:119781400-119782000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:119781400-119782400	Enhancers	Fetal Stomach	stomach
23	chr5:119781400-119783000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:119781400-119783600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:119781400-119785000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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