Variant report

Variant	rs73310018
Chromosome Location	chr12:51341958-51341959
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51336604..51339299-chr12:51340457..51342342,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	1.00[AMR][1000 genomes]
rs11834061	1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	1.00[AMR][1000 genomes]
rs11836332	1.00[AMR][1000 genomes]
rs11837720	1.00[AMR][1000 genomes]
rs12308376	1.00[AMR][1000 genomes]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs59487164	1.00[AMR][1000 genomes]
rs60167482	1.00[AMR][1000 genomes]
rs60725885	1.00[AMR][1000 genomes]
rs73297963	1.00[AMR][1000 genomes]
rs73297974	1.00[AMR][1000 genomes]
rs73300007	1.00[AMR][1000 genomes]
rs73300028	1.00[AMR][1000 genomes]
rs73300044	1.00[AMR][1000 genomes]
rs73300051	1.00[AMR][1000 genomes]
rs73308084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310015	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:31 , 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	chr12:51331800-51342800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:51331800-51343000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:51331800-51353800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:51331800-51382000	Weak transcription	Ovary	ovary
12	chr12:51332000-51346400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:51332400-51343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:51332400-51346200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:51332400-51346200	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:51332400-51346200	Weak transcription	Fetal Stomach	stomach
17	chr12:51332600-51346400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:51332600-51354400	Weak transcription	Thymus	Thymus
19	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
20	chr12:51340000-51361800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:51340800-51342400	Enhancers	HSMMtube	muscle
22	chr12:51341400-51342400	Enhancers	HSMM	muscle
23	chr12:51341400-51348600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:51341600-51342200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:51341600-51342400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:51341600-51342400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
28	chr12:51341800-51342400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:51341800-51344800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:51341800-51372600	Weak transcription	Osteobl	bone
31	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain

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