Variant report

Variant	rs12171297
Chromosome Location	chr3:111531114-111531115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1039309	1.00[AMR][1000 genomes]
rs10755070	1.00[AMR][1000 genomes]
rs1282969	1.00[AMR][1000 genomes]
rs1282971	1.00[AMR][1000 genomes]
rs1352888	1.00[AMR][1000 genomes]
rs1463875	1.00[AMR][1000 genomes]
rs1553226	1.00[AMR][1000 genomes]
rs2055363	1.00[AMR][1000 genomes]
rs28809607	1.00[AMR][1000 genomes]
rs4682064	1.00[AMR][1000 genomes]
rs7340688	1.00[AMR][1000 genomes]
rs7616227	1.00[AMR][1000 genomes]
rs7644889	1.00[AMR][1000 genomes]
rs8179903	1.00[AMR][1000 genomes]
rs937555	1.00[AMR][1000 genomes]
rs937556	1.00[AMR][1000 genomes]
rs937558	1.00[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	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111514600-111533200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:111522400-111531400	Weak transcription	Fetal Lung	lung
3	chr3:111526000-111531400	Enhancers	Hela-S3	cervix
4	chr3:111526400-111531600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:111526400-111533000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:111526600-111531200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:111526600-111532200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:111526600-111532200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:111526600-111532200	Enhancers	NHEK	skin
10	chr3:111526600-111533000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:111526600-111533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:111526800-111531400	Enhancers	HMEC	breast
13	chr3:111526800-111531800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:111526800-111531800	Enhancers	Osteobl	bone
15	chr3:111526800-111532000	Enhancers	NHDF-Ad	bronchial
16	chr3:111526800-111532200	Enhancers	HSMM	muscle
17	chr3:111526800-111532600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:111527000-111531200	Enhancers	NH-A	brain
19	chr3:111527000-111531600	Enhancers	HSMMtube	muscle
20	chr3:111527800-111532000	Enhancers	NHLF	lung
21	chr3:111528000-111531800	Enhancers	A549	lung
22	chr3:111528800-111531200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:111529000-111537800	Weak transcription	Liver	Liver
24	chr3:111529200-111531800	Weak transcription	Stomach Mucosa	stomach
25	chr3:111529400-111534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:111529800-111531400	Enhancers	Colon Smooth Muscle	Colon
27	chr3:111529800-111532000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:111530400-111532000	Enhancers	Fetal Kidney	kidney
29	chr3:111530600-111532000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:111530800-111531200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:111531000-111531200	Enhancers	Small Intestine	intestine
32	chr3:111531000-111531400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:111531000-111531400	Enhancers	Rectal Smooth Muscle	rectum
34	chr3:111531000-111535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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