Variant report

Variant	rs11072430
Chromosome Location	chr15:73981701-73981702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73970534..73973218-chr15:73980839..73983743,2	K562	blood:
2	chr15:73935857..73937490-chr15:73980452..73983279,2	MCF-7	breast:
3	chr15:73921937..73932817-chr15:73973872..73983627,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156642	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11072428	0.80[JPT][hapmap];0.87[MEX][hapmap]
rs11072431	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634399	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11637091	0.82[EUR][1000 genomes]
rs11637315	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12148532	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs12185108	0.80[JPT][hapmap]
rs12591473	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12594175	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594595	0.82[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1383616	0.83[MEX][hapmap]
rs1481089	0.80[JPT][hapmap]
rs16958079	0.80[JPT][hapmap]
rs4075802	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56262972	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56413315	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57771618	0.86[EUR][1000 genomes]
rs6495069	0.80[JPT][hapmap]
rs6495073	0.81[ASN][1000 genomes]
rs6495075	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176654	0.83[CEU][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7497012	0.86[EUR][1000 genomes]
rs8023823	0.82[CEU][hapmap]
rs8028089	0.80[JPT][hapmap]
rs8036954	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]

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
rs11072430	FEZ1	trans	lymphoblastoid	seeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73977800-73981800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:73977800-73982400	Enhancers	Lung	lung
3	chr15:73978200-73982200	Enhancers	Liver	Liver
4	chr15:73978200-73982200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr15:73978200-73982400	Enhancers	Ovary	ovary
6	chr15:73978400-73982600	Enhancers	HUVEC	blood vessel
7	chr15:73978600-73982200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:73978600-73982200	Enhancers	Colon Smooth Muscle	Colon
9	chr15:73978600-73982200	Enhancers	Placenta	Placenta
10	chr15:73978600-73982400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:73978600-73983600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:73978800-73982000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:73978800-73983600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:73978800-73983600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:73978800-73983800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:73978800-73983800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:73978800-73989000	Weak transcription	Fetal Kidney	kidney
18	chr15:73978800-74000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:73979000-73981800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:73979000-73982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:73979000-73982000	Enhancers	Fetal Muscle Leg	muscle
22	chr15:73979000-73982000	Enhancers	HepG2	liver
23	chr15:73979000-73982400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:73979000-73982800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:73979000-73985400	Enhancers	Adipose Nuclei	Adipose
26	chr15:73979200-73981800	Enhancers	NHLF	lung
27	chr15:73979200-73982200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr15:73979200-73982400	Enhancers	HSMMtube	muscle
29	chr15:73979200-73983400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:73979200-73983800	Weak transcription	Colonic Mucosa	Colon
31	chr15:73979200-73985000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:73979400-73981800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:73979400-73981800	Enhancers	Brain Germinal Matrix	brain
34	chr15:73979400-73983400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:73979400-73983800	Enhancers	NHEK	skin
36	chr15:73979400-73986200	Weak transcription	Psoas Muscle	Psoas
37	chr15:73979400-73986800	Weak transcription	Aorta	Aorta
38	chr15:73979400-73989000	Weak transcription	Fetal Intestine Large	intestine
39	chr15:73979400-73996400	Weak transcription	A549	lung
40	chr15:73979600-73981800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:73979600-73982000	Enhancers	Hela-S3	cervix
42	chr15:73979600-73982400	Enhancers	HMEC	breast
43	chr15:73979600-73982400	Enhancers	HSMM	muscle
44	chr15:73979600-73982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:73979600-73983000	Weak transcription	Fetal Intestine Small	intestine
46	chr15:73979600-73983400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:73979800-73982000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr15:73979800-73984200	Enhancers	NH-A	brain
49	chr15:73979800-73984600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:73980000-73983600	Weak transcription	Rectal Smooth Muscle	rectum

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