Variant report

Variant	rs8041124
Chromosome Location	chr15:50434908-50434909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50433897..50436991-chr15:50437166..50439975,3	MCF-7	breast:
2	chr15:50431663..50433550-chr15:50434426..50437064,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10152738	0.80[ASN][1000 genomes]
rs10519250	1.00[ASW][hapmap]
rs10519262	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070750	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11070751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11070752	0.89[GIH][hapmap];0.86[JPT][hapmap]
rs11070753	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11632133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11634271	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11637647	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11638799	0.82[YRI][hapmap]
rs12439182	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12442998	0.80[ASN][1000 genomes]
rs12443171	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12593937	1.00[ASW][hapmap]
rs12901981	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12904370	0.86[CEU][hapmap];0.85[GIH][hapmap]
rs12915042	0.82[YRI][hapmap]
rs12915230	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12915287	1.00[ASW][hapmap];0.80[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.84[LWK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12915987	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2413992	1.00[ASW][hapmap]
rs2414025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28650901	0.88[AFR][1000 genomes]
rs34146758	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4774556	0.88[JPT][hapmap];0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4775865	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5026421	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67251119	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7165446	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7171888	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7176805	0.82[CEU][hapmap]
rs7402755	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8023371	0.81[ASN][1000 genomes]
rs8027073	1.00[ASW][hapmap]
rs8037555	0.88[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs933854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv904208	chr15:50428495-50457858	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8041124	SLC27A2	cis	parietal	SCAN
rs8041124	ATP8B4	cis	parietal	SCAN
rs8041124	TNFAIP8L3	cis	cerebellum	SCAN
rs8041124	SCG3	cis	parietal	SCAN
rs8041124	ATP8B4	cis	lymphoblastoid	seeQTL
rs8041124	ATP8B4	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50427800-50436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:50429000-50437000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:50429000-50437600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:50430400-50436800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:50430400-50436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:50430600-50437000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:50430600-50442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:50430800-50435400	Weak transcription	NHDF-Ad	bronchial
9	chr15:50430800-50437000	Weak transcription	Osteobl	bone
10	chr15:50432200-50435000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:50433600-50435800	Weak transcription	Hela-S3	cervix
12	chr15:50434400-50437600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50434400-50438800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:50434600-50435400	Enhancers	Colon Smooth Muscle	Colon
15	chr15:50434600-50439400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:50434800-50436000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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