Variant report

Variant	rs11886889
Chromosome Location	chr2:37607286-37607287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10173794	0.80[ASN][1000 genomes]
rs10490445	0.86[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12615162	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12617664	0.91[AMR][1000 genomes]
rs12620578	0.91[AMR][1000 genomes]
rs17020706	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2041841	0.97[ASN][1000 genomes]
rs4510203	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4670198	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4670703	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4670708	0.95[AMR][1000 genomes]
rs4670709	0.95[AMR][1000 genomes]
rs58027408	0.95[ASN][1000 genomes]
rs58137025	0.85[ASN][1000 genomes]
rs58864283	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72792862	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72792863	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72792867	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7564835	0.84[EUR][1000 genomes]
rs7567553	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7596962	0.82[ASN][1000 genomes]
rs870803	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870804	0.84[EUR][1000 genomes];0.84[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11886889	FEZ2	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37602600-37607600	Enhancers	Osteobl	bone
2	chr2:37603600-37607400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:37604000-37607800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:37604600-37607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:37604600-37607400	Enhancers	HMEC	breast
6	chr2:37604600-37607600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:37604600-37616800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:37605000-37608200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:37605200-37607400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:37605200-37607400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:37605400-37611400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:37605800-37611200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:37605800-37613800	Weak transcription	HSMMtube	muscle
14	chr2:37605800-37614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37606000-37614200	Weak transcription	NHLF	lung
16	chr2:37606400-37607800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:37606400-37610000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:37606600-37608000	Enhancers	HUVEC	blood vessel
19	chr2:37606600-37608200	Enhancers	Primary B cells from cord blood	blood
20	chr2:37606800-37607400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:37606800-37607400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:37606800-37607400	ZNF genes & repeats	GM12878-XiMat	blood
23	chr2:37606800-37607400	Enhancers	NH-A	brain
24	chr2:37606800-37607600	Bivalent Enhancer	HepG2	liver
25	chr2:37606800-37608600	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:37607000-37607400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37607000-37607400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:37607000-37607400	Enhancers	Ovary	ovary
29	chr2:37607000-37607400	Enhancers	Spleen	Spleen
30	chr2:37607000-37607600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:37607000-37607600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:37607000-37607600	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:37607000-37607600	Enhancers	HSMM	muscle
34	chr2:37607000-37607600	Enhancers	NHDF-Ad	bronchial
35	chr2:37607200-37607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:37607200-37607400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:37607200-37607400	Enhancers	Fetal Thymus	thymus
38	chr2:37607200-37607600	Enhancers	Stomach Mucosa	stomach
39	chr2:37607200-37608200	Enhancers	HUES6 Cell Line	embryonic stem cell

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