Variant report

Variant	rs10519344
Chromosome Location	chr5:112592710-112592711
allele	C/G
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:41)

rs_ID	r²[population]
rs10038017	1.00[EUR][1000 genomes]
rs10040533	0.94[EUR][1000 genomes]
rs10040770	1.00[EUR][1000 genomes]
rs10044201	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10051109	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10058535	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10059129	0.94[EUR][1000 genomes]
rs10070990	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10074346	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10075447	0.94[EUR][1000 genomes]
rs10077020	1.00[CEU][hapmap]
rs10478121	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11953478	0.94[EUR][1000 genomes]
rs11954016	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11954410	0.94[EUR][1000 genomes]
rs11958734	1.00[EUR][1000 genomes]
rs12108831	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13356396	0.81[EUR][1000 genomes]
rs13361059	1.00[EUR][1000 genomes]
rs13361060	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13362158	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1562018	0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs17135493	0.85[EUR][1000 genomes]
rs1882620	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2068922	1.00[EUR][1000 genomes]
rs28494592	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637239	0.83[AFR][1000 genomes]
rs55794576	0.94[EUR][1000 genomes]
rs56875463	0.94[EUR][1000 genomes]
rs6871995	1.00[CEU][hapmap]
rs6874561	0.85[EUR][1000 genomes]
rs73779001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779022	0.94[EUR][1000 genomes]
rs73781513	1.00[EUR][1000 genomes]
rs73781514	1.00[EUR][1000 genomes]
rs7700940	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7719166	0.94[EUR][1000 genomes]
rs9285877	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9326881	1.00[EUR][1000 genomes]
rs9326882	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9326883	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][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	chr5:112589000-112592800	Weak transcription	Right Ventricle	heart
18	chr5:112589000-112594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:112589200-112593200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:112589400-112602200	Weak transcription	Esophagus	oesophagus
22	chr5:112590400-112593800	Enhancers	Liver	Liver
23	chr5:112590400-112594400	Enhancers	Ovary	ovary
24	chr5:112591400-112593600	Enhancers	Fetal Heart	heart
25	chr5:112591400-112593800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:112591400-112594400	Enhancers	Left Ventricle	heart
27	chr5:112591600-112594200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:112591600-112598400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:112591600-112602000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:112591800-112593000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:112592000-112593200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:112592400-112593200	Enhancers	Psoas Muscle	Psoas
33	chr5:112592400-112594200	Enhancers	Right Atrium	heart
34	chr5:112592600-112593000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:112592600-112594800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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