Variant report

Variant	rs4233964
Chromosome Location	chr2:56135497-56135498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10192203	0.89[ASN][1000 genomes]
rs11894650	0.95[ASN][1000 genomes]
rs2033316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2868435	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2903838	1.00[CHB][hapmap]
rs3762514	0.95[ASN][1000 genomes]
rs3762515	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs960993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4233964	EFEMP1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56116400-56144400	Weak transcription	Lung	lung
2	chr2:56119600-56136400	Genic enhancers	HUVEC	blood vessel
3	chr2:56129000-56144200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:56129000-56144400	Weak transcription	HSMMtube	muscle
5	chr2:56129200-56138400	Weak transcription	HMEC	breast
6	chr2:56129200-56142400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
8	chr2:56129400-56143000	Weak transcription	NHLF	lung
9	chr2:56130200-56137000	Weak transcription	NH-A	brain
10	chr2:56132000-56136400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:56132600-56136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:56133800-56140800	Strong transcription	HSMM	muscle
14	chr2:56134400-56136400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:56134800-56135600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56134800-56135600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:56134800-56135600	Enhancers	NHEK	skin
18	chr2:56134800-56137400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:56135000-56138000	Strong transcription	Osteobl	bone
20	chr2:56135200-56135800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:56135200-56136400	Weak transcription	Ovary	ovary
22	chr2:56135200-56138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:56135200-56142000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:56135200-56143600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:56135200-56146600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:56135400-56141000	Weak transcription	Aorta	Aorta

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