Variant report

Variant	rs8036954
Chromosome Location	chr15:73974282-73974283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73921937..73932817-chr15:73973872..73983627,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156642	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11072428	0.87[MEX][hapmap];0.81[TSI][hapmap]
rs11072430	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072431	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11634399	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11637091	0.87[EUR][1000 genomes]
rs11637315	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12148532	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs12591473	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12594175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12594595	0.82[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1383616	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs4075802	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56262972	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56413315	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57771618	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6495073	0.81[ASN][1000 genomes]
rs6495075	0.89[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176654	0.83[CEU][hapmap];0.96[MEX][hapmap]
rs7497012	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8023823	0.82[CEU][hapmap]

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	nsv1037540	chr15:73712637-73982420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8036954	FEZ1	trans	lymphoblastoid	seeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73970000-73976000	Weak transcription	Pancreas	Pancrea
2	chr15:73970000-73976000	Weak transcription	Right Atrium	heart
3	chr15:73970200-73974800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:73970200-73974800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:73971000-73974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:73971800-73976000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:73972000-73977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:73972200-73976200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:73972400-73976000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:73972600-73974800	Weak transcription	Adipose Nuclei	Adipose
11	chr15:73973600-73974800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr15:73973600-73975400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:73973600-73975800	Enhancers	Osteobl	bone
14	chr15:73973600-73976000	Enhancers	Placenta	Placenta
15	chr15:73973800-73974400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:73973800-73974600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:73973800-73975600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:73973800-73975800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:73973800-73975800	Enhancers	Hela-S3	cervix
20	chr15:73973800-73976000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:73974000-73974400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:73974000-73974600	Enhancers	NHEK	skin
23	chr15:73974000-73975000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:73974000-73975200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:73974000-73975600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:73974000-73975600	Weak transcription	Fetal Brain Female	brain
27	chr15:73974000-73975800	Weak transcription	Spleen	Spleen
28	chr15:73974000-73976000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:73974000-73976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:73974200-73974400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:73974200-73974400	Enhancers	HMEC	breast
32	chr15:73974200-73975000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:73974200-73976000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr15:73974200-73976000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:73974200-73976000	Enhancers	NHDF-Ad	bronchial
36	chr15:73974200-73976200	Enhancers	Muscle Satellite Cultured Cells	--

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