Variant report

Variant	rs59265286
Chromosome Location	chr2:56099540-56099541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11680866	1.00[ASN][1000 genomes]
rs3791673	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3791678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55818621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990801	0.86[EUR][1000 genomes]
rs56188784	0.83[AFR][1000 genomes]
rs56358948	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60772612	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6722453	1.00[ASN][1000 genomes]
rs72805677	1.00[AMR][1000 genomes]
rs72807753	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72807766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807772	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72807773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811708	1.00[AMR][1000 genomes]
rs72811720	1.00[AMR][1000 genomes]
rs72811729	1.00[AMR][1000 genomes]
rs72811739	1.00[AMR][1000 genomes]
rs73940332	0.87[AFR][1000 genomes]
rs73940335	0.84[AFR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
2	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
3	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
4	chr2:56091200-56102600	Weak transcription	Hela-S3	cervix
5	chr2:56092400-56100000	Genic enhancers	Osteobl	bone
6	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
7	chr2:56092600-56102600	Strong transcription	HSMM	muscle
8	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
13	chr2:56095000-56102600	Weak transcription	A549	lung
14	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:56096000-56106000	Weak transcription	Ovary	ovary
16	chr2:56097000-56108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:56097400-56102000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:56097400-56102400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:56097600-56102800	Strong transcription	Adipose Nuclei	Adipose
20	chr2:56098000-56099600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:56098000-56107600	Weak transcription	Lung	lung
22	chr2:56098200-56099600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:56098200-56102600	Weak transcription	HMEC	breast
24	chr2:56098600-56102600	Weak transcription	NH-A	brain
25	chr2:56098600-56107000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:56099000-56100200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:56099000-56100800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:56099000-56101600	Weak transcription	NHLF	lung
29	chr2:56099000-56102600	Weak transcription	HSMMtube	muscle
30	chr2:56099000-56102600	Weak transcription	NHEK	skin
31	chr2:56099000-56102800	Weak transcription	Aorta	Aorta
32	chr2:56099000-56102800	Weak transcription	Right Atrium	heart
33	chr2:56099200-56101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:56099200-56101200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:56099200-56101200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:56099200-56102000	Weak transcription	NHDF-Ad	bronchial
37	chr2:56099200-56102800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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