Variant report

Variant	rs4666772
Chromosome Location	chr2:189978017-189978018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166301	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2229495	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4128539	0.83[EUR][1000 genomes]
rs4667262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6414122	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6434312	0.95[AMR][1000 genomes]
rs7419570	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7556733	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 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	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189947600-189980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:189948200-189980600	Weak transcription	Placenta	Placenta
5	chr2:189954800-189980400	Weak transcription	Ovary	ovary
6	chr2:189958200-189981000	Weak transcription	Fetal Stomach	stomach
7	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
8	chr2:189962600-189978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:189962600-189980600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:189969000-189980000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:189971000-189978200	Strong transcription	HSMM	muscle
13	chr2:189973000-189980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:189974600-189980200	Weak transcription	Fetal Lung	lung
15	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:189975000-189980200	Weak transcription	Adipose Nuclei	Adipose
17	chr2:189975200-189978600	Weak transcription	NHDF-Ad	bronchial
18	chr2:189975200-189978600	Weak transcription	NHLF	lung
19	chr2:189975200-189980400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:189975200-189980400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:189975200-189980800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:189975200-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:189975200-189988600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:189975400-189978600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:189975400-189988600	Weak transcription	HUVEC	blood vessel
26	chr2:189975600-189978600	Weak transcription	NH-A	brain
27	chr2:189975600-189978600	Weak transcription	Osteobl	bone
28	chr2:189976000-189986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:189977200-189978200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr2:189977200-189978400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:189977800-189978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:189977800-189978800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:189977800-189978800	Enhancers	HSMMtube	muscle
34	chr2:189977800-189979200	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:189977800-189979200	Genic enhancers	A549	lung
36	chr2:189978000-189978200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:189978000-189978600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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