Variant report

Variant	rs630625
Chromosome Location	chr18:43553550-43553551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10432160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10432197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853537	0.80[JPT][hapmap]
rs11082498	0.85[ASN][1000 genomes]
rs11082501	0.84[ASN][1000 genomes]
rs11661333	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12232683	0.81[ASN][1000 genomes]
rs12454420	0.84[ASN][1000 genomes]
rs12604430	0.82[ASN][1000 genomes]
rs12604492	0.81[ASN][1000 genomes]
rs1371976	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs1573404	0.85[ASN][1000 genomes]
rs1893523	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2004084	0.84[ASN][1000 genomes]
rs28430300	0.84[ASN][1000 genomes]
rs3745000	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4629066	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs475452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs507653	0.81[JPT][hapmap]
rs57531499	0.87[ASN][1000 genomes]
rs58312765	0.84[ASN][1000 genomes]
rs584397	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59884993	0.84[ASN][1000 genomes]
rs60866799	0.85[ASN][1000 genomes]
rs61363974	0.81[ASN][1000 genomes]
rs61449207	0.88[ASN][1000 genomes]
rs61680317	0.84[ASN][1000 genomes]
rs6507652	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7226881	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7230104	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7231179	0.90[AMR][1000 genomes]
rs7231317	0.87[AMR][1000 genomes]
rs7235629	0.85[ASN][1000 genomes]
rs7238724	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242733	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72918390	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8086401	0.88[ASN][1000 genomes]
rs8087546	0.85[ASN][1000 genomes]
rs8088153	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8093119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8097415	0.81[ASN][1000 genomes]
rs8098175	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8098701	0.84[ASN][1000 genomes]
rs8099496	0.80[JPT][hapmap]
rs9948634	0.89[AMR][1000 genomes]
rs9955285	0.93[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9958844	0.82[ASN][1000 genomes]
rs9959763	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9963463	0.93[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs9964220	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9964347	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv2277	chr18:43543715-43588579	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs630625	KIAA1632	cis	Lymphoblastoid	GTEx
rs630625	KIAA1632	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43548000-43567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:43548200-43553600	Weak transcription	Osteobl	bone
3	chr18:43548200-43553800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:43548200-43553800	Weak transcription	NHDF-Ad	bronchial
5	chr18:43548200-43554000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:43548200-43554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:43548200-43556800	Weak transcription	NHLF	lung
8	chr18:43548200-43562800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:43553400-43553600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr18:43553400-43554600	Enhancers	Primary B cells from cord blood	blood

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