Variant report

Variant	rs12187518
Chromosome Location	chr5:15623646-15623647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10053108	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs10520820	0.83[YRI][hapmap]
rs12757	0.82[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs13159972	0.81[EUR][1000 genomes]
rs13165880	0.83[EUR][1000 genomes]
rs13170478	0.82[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1429032	0.95[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs1429033	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17523312	0.90[YRI][hapmap]
rs1835128	0.95[CEU][hapmap]
rs1835129	0.95[CEU][hapmap]
rs1991529	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs2217346	0.81[EUR][1000 genomes]
rs4295390	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs4587075	0.83[YRI][hapmap]
rs60120968	0.81[EUR][1000 genomes]
rs6871889	0.83[YRI][hapmap]
rs6878081	0.81[CEU][hapmap]
rs6878131	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs6891138	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6898779	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7720476	0.82[CEU][hapmap];0.80[YRI][hapmap]

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
3	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:15610000-15627400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:15610400-15635200	Weak transcription	Fetal Stomach	stomach
6	chr5:15613600-15635200	Weak transcription	Right Ventricle	heart
7	chr5:15620800-15635000	Weak transcription	Lung	lung
8	chr5:15620800-15635400	Weak transcription	Psoas Muscle	Psoas
9	chr5:15621400-15624600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:15621400-15630000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:15621400-15635400	Weak transcription	Aorta	Aorta
12	chr5:15621600-15627000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:15621800-15624200	Weak transcription	Ovary	ovary
14	chr5:15621800-15624400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:15621800-15625000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:15621800-15625000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:15621800-15627200	Weak transcription	HSMMtube	muscle
18	chr5:15621800-15627400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:15621800-15629200	Weak transcription	Left Ventricle	heart
20	chr5:15621800-15629600	Weak transcription	HSMM	muscle
21	chr5:15622000-15626600	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:15622000-15627200	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:15622200-15623800	Weak transcription	NHDF-Ad	bronchial
24	chr5:15622200-15625800	Weak transcription	Fetal Heart	heart
25	chr5:15622200-15627200	Weak transcription	HUVEC	blood vessel

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