Variant report

Variant	rs17047287
Chromosome Location	chr2:56103682-56103683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11680866	0.97[EUR][1000 genomes]
rs17047290	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3748959	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3791677	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55778215	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55784446	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55867135	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56122343	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56243516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6722453	0.95[EUR][1000 genomes]
rs7573078	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7573238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589466	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:40 , 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	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
5	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
10	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:56096000-56106000	Weak transcription	Ovary	ovary
12	chr2:56097000-56108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56098000-56107600	Weak transcription	Lung	lung
14	chr2:56098600-56107000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:56101000-56106800	Weak transcription	Fetal Kidney	kidney
16	chr2:56101000-56107600	Weak transcription	Gastric	stomach
17	chr2:56101200-56105800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56101200-56106000	Genic enhancers	Osteobl	bone
19	chr2:56102000-56105000	Enhancers	NHDF-Ad	bronchial
20	chr2:56102600-56103800	Genic enhancers	HSMM	muscle
21	chr2:56102600-56103800	Strong transcription	NHEK	skin
22	chr2:56102600-56104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56102600-56105600	Enhancers	Hela-S3	cervix
24	chr2:56102800-56104000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:56102800-56105000	Enhancers	Aorta	Aorta
26	chr2:56103000-56104800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56103200-56105000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:56103200-56105000	Enhancers	HSMMtube	muscle
29	chr2:56103200-56107400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:56103200-56107600	Weak transcription	Right Atrium	heart
31	chr2:56103200-56108000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:56103400-56104800	Enhancers	NHLF	lung
33	chr2:56103400-56105800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:56103400-56110000	Weak transcription	A549	lung
35	chr2:56103600-56104800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:56103600-56104800	Weak transcription	HMEC	breast
37	chr2:56103600-56105000	Enhancers	Adipose Nuclei	Adipose
38	chr2:56103600-56106600	Weak transcription	NH-A	brain
39	chr2:56103600-56107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:56103600-56107800	Weak transcription	Fetal Intestine Large	intestine

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