Variant report

Variant	rs17324474
Chromosome Location	chr5:112591838-112591839
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10519348	0.83[ASN][1000 genomes]
rs10519354	0.87[EUR][1000 genomes]
rs11241202	0.87[EUR][1000 genomes]
rs11738347	0.89[EUR][1000 genomes]
rs11738587	0.87[EUR][1000 genomes]
rs11739509	0.95[EUR][1000 genomes]
rs11746828	0.83[EUR][1000 genomes]
rs11748646	0.93[EUR][1000 genomes]
rs11750254	0.83[EUR][1000 genomes]
rs13177178	0.99[EUR][1000 genomes]
rs13182359	0.83[EUR][1000 genomes]
rs13189851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327139	0.86[EUR][1000 genomes]
rs185336	0.81[EUR][1000 genomes]
rs255857	0.84[EUR][1000 genomes]
rs255859	0.84[EUR][1000 genomes]
rs255870	0.80[EUR][1000 genomes]
rs255871	0.84[EUR][1000 genomes]
rs26962	0.81[EUR][1000 genomes]
rs26965	0.84[EUR][1000 genomes]
rs26980	0.81[EUR][1000 genomes]
rs26982	0.81[EUR][1000 genomes]
rs26986	0.81[EUR][1000 genomes]
rs34361144	0.84[EUR][1000 genomes]
rs34539248	0.89[EUR][1000 genomes]
rs34625553	0.91[EUR][1000 genomes]
rs34766128	0.96[ASN][1000 genomes]
rs35111059	0.87[EUR][1000 genomes]
rs35451724	0.89[EUR][1000 genomes]
rs35568473	0.81[EUR][1000 genomes]
rs36611	0.81[EUR][1000 genomes]
rs36613	0.84[EUR][1000 genomes]
rs66629800	0.83[EUR][1000 genomes]
rs67344014	0.89[EUR][1000 genomes]
rs67767339	0.91[EUR][1000 genomes]
rs67894881	1.00[EUR][1000 genomes]
rs68189049	0.89[EUR][1000 genomes]
rs71577443	0.86[EUR][1000 genomes]
rs72788641	0.99[EUR][1000 genomes]
rs72797916	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:38 , 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	chr5:112586800-112592000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:112586800-112598800	Weak transcription	Fetal Kidney	kidney
10	chr5:112586800-112599400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:112587000-112594600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:112587200-112599400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:112588000-112592000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:112588000-112592400	Weak transcription	Psoas Muscle	Psoas
16	chr5:112588000-112594800	Weak transcription	NHEK	skin
17	chr5:112588000-112598600	Weak transcription	Fetal Lung	lung
18	chr5:112588000-112601200	Weak transcription	HMEC	breast
19	chr5:112588200-112594800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112589000-112592400	Weak transcription	Right Atrium	heart
21	chr5:112589000-112592800	Weak transcription	Right Ventricle	heart
22	chr5:112589000-112594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:112589200-112593200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:112589400-112602200	Weak transcription	Esophagus	oesophagus
26	chr5:112590400-112593800	Enhancers	Liver	Liver
27	chr5:112590400-112594400	Enhancers	Ovary	ovary
28	chr5:112590800-112592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:112590800-112592400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:112591000-112592600	Enhancers	Adipose Nuclei	Adipose
31	chr5:112591400-112593600	Enhancers	Fetal Heart	heart
32	chr5:112591400-112593800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:112591400-112594400	Enhancers	Left Ventricle	heart
34	chr5:112591600-112594200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:112591600-112598400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:112591600-112602000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:112591800-112592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:112591800-112593000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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