Variant report

Variant	rs12652729
Chromosome Location	chr5:15633019-15633020
allele	A/G
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:47)

rs_ID	r²[population]
rs1025328	0.88[CEU][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10454921	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10520817	0.83[CEU][hapmap]
rs10520818	0.83[CEU][hapmap]
rs11953541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12187510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189306	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12189348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12189375	0.81[CEU][hapmap]
rs12652710	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12655307	0.91[CEU][hapmap]
rs12656824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12656926	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12659622	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13170478	0.83[CHB][hapmap]
rs13174706	0.83[GIH][hapmap]
rs1429032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1549696	1.00[CEU][hapmap]
rs1582998	1.00[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs16903918	0.91[CEU][hapmap]
rs17523312	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17523716	0.91[CEU][hapmap]
rs17523908	0.91[CEU][hapmap]
rs17523929	0.90[CEU][hapmap]
rs17524082	0.86[CEU][hapmap]
rs17601883	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs17602097	0.91[CEU][hapmap];0.83[GIH][hapmap]
rs17602228	0.91[CEU][hapmap]
rs17602477	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs17602533	0.83[GIH][hapmap]
rs17703976	0.91[CEU][hapmap]
rs1909723	0.83[GIH][hapmap]
rs1973477	0.83[GIH][hapmap]
rs2914762	1.00[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs4509020	0.91[CEU][hapmap]
rs4510585	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4510586	1.00[CEU][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4702087	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs60120968	1.00[ASN][1000 genomes]
rs6877517	0.81[CEU][hapmap];0.82[GIH][hapmap]
rs6879143	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6892081	1.00[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs7720476	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7733676	0.91[CEU][hapmap]
rs891195	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4732	chr5:15598325-15636520	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
2	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:15610400-15635200	Weak transcription	Fetal Stomach	stomach
4	chr5:15613600-15635200	Weak transcription	Right Ventricle	heart
5	chr5:15620800-15635000	Weak transcription	Lung	lung
6	chr5:15620800-15635400	Weak transcription	Psoas Muscle	Psoas
7	chr5:15621400-15635400	Weak transcription	Aorta	Aorta
8	chr5:15627600-15635400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:15627600-15648000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:15627800-15635000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:15627800-15635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:15627800-15637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:15628800-15635200	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:15629800-15635200	Weak transcription	Left Ventricle	heart
15	chr5:15629800-15635200	Weak transcription	Ovary	ovary
16	chr5:15630200-15635200	Weak transcription	NHDF-Ad	bronchial
17	chr5:15630600-15634600	Weak transcription	HSMM	muscle
18	chr5:15630600-15634600	Weak transcription	HSMMtube	muscle
19	chr5:15630600-15635200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:15630600-15635200	Weak transcription	Osteobl	bone
21	chr5:15630800-15634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:15630800-15634800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:15631000-15634800	Weak transcription	Fetal Heart	heart
24	chr5:15631000-15635400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:15631400-15635200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:15631400-15645200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:15631800-15633400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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