Variant report

Variant	rs4318427
Chromosome Location	chr2:56135032-56135033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10201208	0.83[AMR][1000 genomes]
rs13429887	0.91[AMR][1000 genomes]
rs14282	0.91[AMR][1000 genomes]
rs55886642	0.91[AMR][1000 genomes]
rs72811719	0.91[AMR][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

No data

Chromatin state (count:25 , 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	chr2:56132200-56135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:56132600-56136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:56133800-56140800	Strong transcription	HSMM	muscle
15	chr2:56134200-56135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56134400-56135200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:56134400-56136400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:56134800-56135200	Enhancers	Adipose Nuclei	Adipose
19	chr2:56134800-56135200	Strong transcription	Ovary	ovary
20	chr2:56134800-56135600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:56134800-56135600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:56134800-56135600	Enhancers	NHEK	skin
23	chr2:56134800-56137400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:56135000-56135400	Enhancers	Aorta	Aorta
25	chr2:56135000-56138000	Strong transcription	Osteobl	bone

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