Variant report

Variant	rs73310019
Chromosome Location	chr12:51342372-51342373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11169614	1.00[AMR][1000 genomes]
rs11835513	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124979	1.00[AMR][1000 genomes]
rs17125085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125245	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809906	1.00[AMR][1000 genomes]
rs56840343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56883422	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979742	1.00[AMR][1000 genomes]
rs58343549	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58493263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089061	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60610335	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60720958	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60886362	0.92[AFR][1000 genomes]
rs61550892	1.00[AMR][1000 genomes]
rs7137990	1.00[AMR][1000 genomes]
rs7303962	1.00[AMR][1000 genomes]
rs7309789	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296205	1.00[AMR][1000 genomes]
rs73297927	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297966	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300041	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308073	1.00[AMR][1000 genomes]
rs73308091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310024	1.00[AMR][1000 genomes]
rs73311230	1.00[AMR][1000 genomes]
rs73311252	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	chr12:51341600-51342400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:51341600-51342400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
27	chr12:51341800-51342400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:51341800-51344800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:51341800-51372600	Weak transcription	Osteobl	bone
30	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
31	chr12:51342200-51361200	Weak transcription	Fetal Muscle Trunk	muscle

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