Variant report

Variant	rs1503929
Chromosome Location	chr5:119792392-119792393
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119785992..119787497-chr5:119792334..119794755,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1432462	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432463	1.00[ASN][1000 genomes]
rs1503926	0.81[YRI][hapmap]
rs1503928	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146628	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17146632	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146635	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17146644	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17424128	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17489517	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17489671	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489720	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490270	1.00[JPT][hapmap]
rs56398366	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57401201	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58699148	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58831848	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60249515	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61113370	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66523245	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72784202	0.82[EUR][1000 genomes]
rs72786224	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786225	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786226	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786229	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786237	1.00[ASN][1000 genomes]
rs7715549	0.88[MEX][hapmap]
rs7730105	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734475	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[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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