Variant report

Variant	rs17450296
Chromosome Location	chr5:108439391-108439392
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10043235	1.00[JPT][hapmap]
rs10043497	1.00[JPT][hapmap]
rs1036213	1.00[JPT][hapmap]
rs10515398	1.00[JPT][hapmap]
rs1133392	1.00[JPT][hapmap]
rs11953198	1.00[JPT][hapmap]
rs11956354	1.00[JPT][hapmap]
rs13358819	1.00[JPT][hapmap]
rs13359743	1.00[JPT][hapmap]
rs17161573	1.00[JPT][hapmap]
rs17161574	1.00[JPT][hapmap]
rs17450414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450476	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17450497	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17450525	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17450560	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17450567	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17534668	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17534807	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17534957	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3797817	1.00[JPT][hapmap]
rs3797822	1.00[JPT][hapmap]
rs3797846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814066	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3851456	1.00[JPT][hapmap]
rs6872912	1.00[JPT][hapmap]
rs7709487	1.00[JPT][hapmap]
rs7715602	1.00[JPT][hapmap]
rs7736915	1.00[JPT][hapmap]

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	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv882692	chr5:108391660-108474166	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882693	chr5:108391660-108502493	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108410400-108441200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:108416400-108441200	Weak transcription	HSMM	muscle
3	chr5:108422800-108444800	Weak transcription	Left Ventricle	heart
4	chr5:108426000-108441400	Weak transcription	Aorta	Aorta
5	chr5:108427400-108441200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:108427400-108441400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:108433400-108441400	Weak transcription	Fetal Heart	heart
8	chr5:108435600-108446800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:108436400-108441400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:108437000-108441200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:108437000-108441400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:108437000-108441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:108438200-108440800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:108438200-108441200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:108438400-108440200	Weak transcription	NHDF-Ad	bronchial
16	chr5:108438800-108441200	Weak transcription	NHLF	lung
17	chr5:108438800-108442200	Weak transcription	HepG2	liver

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