Variant report

Variant	rs12496000
Chromosome Location	chr3:133847661-133847662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12491226	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12635144	1.00[AFR][1000 genomes]
rs59839641	0.87[AMR][1000 genomes]
rs61693873	1.00[AFR][1000 genomes];0.95[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	nsv965344	chr3:133805086-133862489	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133827600-133862800	Weak transcription	Left Ventricle	heart
2	chr3:133838800-133847800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:133840600-133862800	Weak transcription	Right Ventricle	heart
4	chr3:133840800-133862800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:133842000-133848000	Weak transcription	Ovary	ovary
6	chr3:133842000-133872600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:133842600-133862800	Weak transcription	Adipose Nuclei	Adipose
8	chr3:133842600-133870600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:133842800-133872000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:133843000-133848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:133843000-133853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:133843000-133858600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:133843000-133871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:133843000-133872600	Weak transcription	Gastric	stomach
15	chr3:133843200-133847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:133843200-133848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:133843200-133852000	Weak transcription	Placenta	Placenta
18	chr3:133843200-133853200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:133843200-133858800	Weak transcription	Pancreas	Pancrea
20	chr3:133843600-133848000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:133845800-133848800	Weak transcription	Brain Substantia Nigra	brain
22	chr3:133847200-133848400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:133847200-133849000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr3:133847400-133848000	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr3:133847400-133848400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:133847400-133848400	Strong transcription	Primary T cells from cord blood	blood
27	chr3:133847400-133848400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr3:133847600-133848200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr3:133847600-133848400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:133847600-133848400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr3:133847600-133848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:133847600-133848400	Strong transcription	Liver	Liver

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