Variant report

Variant	rs73310022
Chromosome Location	chr12:51343197-51343198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11169623	1.00[AMR][1000 genomes]
rs11169624	1.00[AMR][1000 genomes]
rs11169628	1.00[AMR][1000 genomes]
rs11169631	1.00[AMR][1000 genomes]
rs11169635	1.00[AMR][1000 genomes]
rs12304470	1.00[AMR][1000 genomes]
rs12312876	1.00[AMR][1000 genomes]
rs12317669	1.00[AMR][1000 genomes]
rs12317736	1.00[AMR][1000 genomes]
rs12318840	1.00[AMR][1000 genomes]
rs60895426	1.00[AMR][1000 genomes]
rs73300037	1.00[AMR][1000 genomes]
rs73308088	1.00[AMR][1000 genomes]
rs73310007	1.00[AMR][1000 genomes]
rs73310014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
3	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
4	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
5	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
7	chr12:51331800-51353800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:51331800-51382000	Weak transcription	Ovary	ovary
10	chr12:51332000-51346400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:51332400-51343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:51332400-51346200	Weak transcription	Fetal Intestine Small	intestine
13	chr12:51332400-51346200	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:51332400-51346200	Weak transcription	Fetal Stomach	stomach
15	chr12:51332600-51346400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:51332600-51354400	Weak transcription	Thymus	Thymus
17	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
18	chr12:51340000-51361800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:51341400-51348600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
21	chr12:51341800-51344800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:51341800-51372600	Weak transcription	Osteobl	bone
23	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
24	chr12:51342200-51361200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:51342400-51360000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:51342400-51373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:51342800-51343200	Enhancers	Brain Anterior Caudate	brain
28	chr12:51342800-51343200	Enhancers	Brain Hippocampus Middle	brain
29	chr12:51342800-51343400	Weak transcription	HSMMtube	muscle
30	chr12:51342800-51346600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr12:51342800-51378400	Weak transcription	NHLF	lung
32	chr12:51343000-51343200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:51343000-51343400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:51343000-51355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:51343000-51366200	Weak transcription	Brain Germinal Matrix	brain

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