Variant report

Variant	rs13170478
Chromosome Location	chr5:15602644-15602645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10053108	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1025329	0.90[CHB][hapmap]
rs10454921	0.82[CHB][hapmap]
rs11745041	0.81[CEU][hapmap]
rs11953541	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs12187510	0.83[CHB][hapmap]
rs12187518	0.82[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12189348	0.90[CHB][hapmap]
rs12652729	0.83[CHB][hapmap]
rs12654662	0.81[EUR][1000 genomes]
rs12656824	0.83[CHB][hapmap]
rs12658046	0.88[CEU][hapmap]
rs12659622	0.83[CHB][hapmap]
rs12757	0.81[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap]
rs13159972	0.92[CEU][hapmap];0.81[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs13165880	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13185548	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1429032	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs1429033	0.82[EUR][1000 genomes]
rs17523312	0.92[CEU][hapmap];0.83[CHB][hapmap]
rs17601883	0.90[CHB][hapmap]
rs17647599	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1835128	0.84[CEU][hapmap]
rs1835129	0.84[CEU][hapmap]
rs1991529	1.00[CEU][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2217346	0.92[CEU][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4295390	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4702090	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4702098	0.88[CEU][hapmap]
rs6864426	0.91[YRI][hapmap]
rs6869226	0.81[CEU][hapmap]
rs6878081	0.91[CEU][hapmap]
rs6878131	0.96[CEU][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6879143	0.83[CHB][hapmap]
rs6891138	1.00[CEU][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6898779	0.96[CEU][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs7720476	1.00[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.88[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15581000-15604400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:15581600-15603400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:15585000-15604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:15585000-15606400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:15585200-15605200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:15586000-15619800	Weak transcription	NHLF	lung
8	chr5:15588200-15605400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:15588400-15612600	Weak transcription	NHDF-Ad	bronchial
10	chr5:15588800-15603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:15590800-15605000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:15593400-15606000	Weak transcription	HUVEC	blood vessel
13	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
14	chr5:15593600-15606200	Weak transcription	Fetal Brain Male	brain
15	chr5:15593600-15606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:15594800-15605000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:15595200-15607800	Weak transcription	Fetal Kidney	kidney
18	chr5:15597400-15604800	Weak transcription	Ovary	ovary
19	chr5:15597400-15605000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:15600200-15605000	Weak transcription	Aorta	Aorta
21	chr5:15600600-15605000	Weak transcription	Left Ventricle	heart
22	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:15600800-15603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:15601400-15602800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:15601400-15605000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:15601600-15603200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:15601800-15604800	Weak transcription	HSMM	muscle
28	chr5:15601800-15606400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:15601800-15609400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:15601800-15610000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:15602000-15602800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:15602000-15604800	Weak transcription	HSMMtube	muscle
33	chr5:15602000-15606200	Weak transcription	Fetal Heart	heart
34	chr5:15602200-15604400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:15602400-15606200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:15602400-15606400	Weak transcription	Brain Angular Gyrus	brain
37	chr5:15602400-15606400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:15602400-15606400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:15602400-15610400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:15602600-15606400	Weak transcription	Brain Anterior Caudate	brain
41	chr5:15602600-15606400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:15602600-15609000	Weak transcription	Fetal Stomach	stomach

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