Variant report

Variant	rs17433449
Chromosome Location	chr5:57390095-57390096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57378894..57391869-chr5:57753957..57758751,18	MCF-7	breast:
2	chr5:57386521..57389081-chr5:57389684..57392524,3	MCF-7	breast:
3	chr5:57385340..57390728-chr5:57748892..57752531,5	MCF-7	breast:
4	chr5:57375652..57378198-chr5:57388610..57391514,3	MCF-7	breast:
5	chr5:57387225..57390509-chr5:57754376..57756961,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10461644	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10461645	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10491418	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10491419	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1125324	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13152942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153091	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13155421	0.88[EUR][1000 genomes]
rs13159010	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13159117	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13160117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164786	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13168168	0.88[EUR][1000 genomes]
rs13170721	0.88[EUR][1000 genomes]
rs13173426	1.00[AFR][1000 genomes]
rs13176924	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13178678	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13179148	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13181962	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13185082	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13185712	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13186152	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13186306	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13187466	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13190103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549244	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1565335	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17367557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17367866	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368537	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17368635	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17368691	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17368889	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17368931	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17368965	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17369063	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369443	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369506	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369617	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17369645	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17370357	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17433232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17433281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17433351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17433413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17433525	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17433602	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17433644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434105	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17434147	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17434756	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17434985	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17435116	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17750857	0.88[EUR][1000 genomes]
rs17750946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17750970	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17751024	0.82[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2130362	0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2409072	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2898084	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34028264	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34088369	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34140627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34145550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34183980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34283705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34357926	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34362402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34393614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34469485	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34486088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34540977	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34558865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34563650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34668052	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34728348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34739332	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34839607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34900511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34911212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35020899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35132533	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35288659	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35474010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35480511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35493107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35585983	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35637947	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35699974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36003001	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36056213	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36118761	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4328995	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58405952	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71624184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71624185	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7734877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033051	chr5:57380218-57471801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17433449	CENPBD1	trans	brain	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57388000-57390600	Enhancers	HMEC	breast
2	chr5:57388600-57390600	Enhancers	NHEK	skin
3	chr5:57389000-57390200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:57389000-57390400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:57389200-57390400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:57389400-57390200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:57389400-57390400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:57389400-57390800	Enhancers	A549	lung
9	chr5:57389600-57390200	Enhancers	Fetal Thymus	thymus
10	chr5:57389600-57391000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:57389800-57390400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:57390000-57390400	Enhancers	Hela-S3	cervix

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