Variant report

Variant	rs10519345
Chromosome Location	chr5:112592912-112592913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10519343	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519346	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11241197	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11740045	0.92[ASN][1000 genomes]
rs11740190	0.97[ASN][1000 genomes]
rs11740233	0.97[ASN][1000 genomes]
rs11740318	0.97[ASN][1000 genomes]
rs11740353	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs11740443	0.97[ASN][1000 genomes]
rs11741794	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11741937	0.92[ASN][1000 genomes]
rs11743052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11744606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11746532	0.92[ASN][1000 genomes]
rs11746791	0.97[ASN][1000 genomes]
rs11746821	1.00[ASN][1000 genomes]
rs11748058	0.95[ASN][1000 genomes]
rs11748465	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11748524	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11749864	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs12186466	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs12188069	0.95[ASN][1000 genomes]
rs12188070	0.95[ASN][1000 genomes]
rs12188230	0.97[ASN][1000 genomes]
rs12518849	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12520003	1.00[CHB][hapmap]
rs12522862	0.82[YRI][hapmap]
rs12523027	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs12523284	0.92[ASN][1000 genomes]
rs17135488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17135496	0.89[YRI][hapmap]
rs17135506	1.00[ASN][1000 genomes]
rs17135507	1.00[ASN][1000 genomes]
rs17135514	0.82[ASN][1000 genomes]
rs17135515	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs17135517	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs17135520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17135526	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs17135531	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs17135535	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17135543	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs17135546	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs1845289	0.92[ASN][1000 genomes]
rs1997521	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs2091803	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2091804	0.93[ASN][1000 genomes]
rs34271294	0.85[ASN][1000 genomes]
rs4632792	1.00[ASN][1000 genomes]
rs4705806	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs4705807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4705808	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs4705809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4705810	0.97[ASN][1000 genomes]
rs56294433	0.85[ASN][1000 genomes]
rs56362568	0.89[ASN][1000 genomes]
rs59107004	0.97[ASN][1000 genomes]
rs59222257	0.97[ASN][1000 genomes]
rs60087454	0.97[ASN][1000 genomes]
rs60437559	0.97[ASN][1000 genomes]
rs6594695	0.97[ASN][1000 genomes]
rs6594696	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs6594697	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs66893265	0.97[ASN][1000 genomes]
rs67063423	0.97[ASN][1000 genomes]
rs67373655	0.97[ASN][1000 genomes]
rs67550282	0.97[ASN][1000 genomes]
rs68069850	0.97[ASN][1000 genomes]
rs6879761	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6887565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6888602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73244768	0.87[ASN][1000 genomes]
rs73244769	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73244770	0.93[ASN][1000 genomes]
rs73244772	0.93[ASN][1000 genomes]
rs73244779	0.97[ASN][1000 genomes]
rs73246604	1.00[ASN][1000 genomes]
rs73246629	0.92[ASN][1000 genomes]
rs73246648	0.90[ASN][1000 genomes]
rs73246657	0.85[ASN][1000 genomes]
rs73246677	0.92[ASN][1000 genomes]
rs73246681	0.92[ASN][1000 genomes]
rs7724707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7724717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7724936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs971370	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs971371	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs971373	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs977997	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:112582800-112601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:112583000-112604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:112583600-112599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112586000-112593000	Weak transcription	Brain Angular Gyrus	brain
6	chr5:112586600-112598800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
8	chr5:112586800-112598800	Weak transcription	Fetal Kidney	kidney
9	chr5:112586800-112599400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:112587000-112594600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112587200-112599400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:112588000-112594800	Weak transcription	NHEK	skin
14	chr5:112588000-112598600	Weak transcription	Fetal Lung	lung
15	chr5:112588000-112601200	Weak transcription	HMEC	breast
16	chr5:112588200-112594800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112589000-112594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:112589200-112593200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:112589400-112602200	Weak transcription	Esophagus	oesophagus
21	chr5:112590400-112593800	Enhancers	Liver	Liver
22	chr5:112590400-112594400	Enhancers	Ovary	ovary
23	chr5:112591400-112593600	Enhancers	Fetal Heart	heart
24	chr5:112591400-112593800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:112591400-112594400	Enhancers	Left Ventricle	heart
26	chr5:112591600-112594200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:112591600-112598400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112591600-112602000	Weak transcription	Brain Substantia Nigra	brain
29	chr5:112591800-112593000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112592000-112593200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:112592400-112593200	Enhancers	Psoas Muscle	Psoas
32	chr5:112592400-112594200	Enhancers	Right Atrium	heart
33	chr5:112592600-112593000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:112592600-112594800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:112592800-112594400	Enhancers	Right Ventricle	heart

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