Variant report

Variant	rs58982313
Chromosome Location	chr12:67752363-67752364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28785562	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55718199	1.00[EUR][1000 genomes]
rs56009409	0.94[EUR][1000 genomes]
rs56044711	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56256810	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56956717	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57682356	0.94[EUR][1000 genomes]
rs58181317	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58398438	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58559744	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58577936	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59402354	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59826349	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59842954	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61237339	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61371870	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61539332	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581748	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7134160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300154	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7301023	1.00[EUR][1000 genomes]
rs7308079	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7308322	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7313387	0.94[EUR][1000 genomes]
rs73318892	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73320730	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73320788	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73324517	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73324577	0.94[EUR][1000 genomes]
rs74098702	1.00[EUR][1000 genomes]
rs74100307	0.88[EUR][1000 genomes]
rs74100308	1.00[EUR][1000 genomes]
rs74100320	1.00[EUR][1000 genomes]
rs74100321	1.00[EUR][1000 genomes]
rs74100325	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74100337	1.00[EUR][1000 genomes]
rs7953592	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7960660	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7968351	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7974384	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7977176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67741800-67759200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67748000-67753600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:67748000-67753800	Enhancers	HSMM	muscle
5	chr12:67748600-67752600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:67748600-67752600	Weak transcription	Right Atrium	heart
7	chr12:67749800-67752400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:67749800-67753600	Enhancers	Osteobl	bone
9	chr12:67750200-67752600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:67750200-67752600	Weak transcription	Psoas Muscle	Psoas
11	chr12:67750200-67752800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:67750200-67753400	Weak transcription	Ovary	ovary
13	chr12:67750400-67752600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:67750400-67752600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:67750400-67752800	Weak transcription	Fetal Heart	heart
16	chr12:67751000-67753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:67751200-67752800	Flanking Active TSS	HSMMtube	muscle
18	chr12:67751200-67754000	Enhancers	Fetal Muscle Leg	muscle
19	chr12:67751400-67752800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:67751400-67753200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:67751400-67753800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:67751400-67753800	Enhancers	NHDF-Ad	bronchial
23	chr12:67751600-67752800	Weak transcription	Fetal Kidney	kidney
24	chr12:67751600-67752800	Enhancers	Left Ventricle	heart
25	chr12:67751800-67752600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:67751800-67752800	Enhancers	Fetal Muscle Trunk	muscle
27	chr12:67752000-67752400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:67752000-67753200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:67752200-67752400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:67752200-67752800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:67752200-67752800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:67752200-67753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:67752200-67753200	Enhancers	Fetal Thymus	thymus
34	chr12:67752200-67753200	Flanking Active TSS	Dnd41	blood
35	chr12:67752200-67753600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:67752200-67753600	Enhancers	Adipose Nuclei	Adipose
37	chr12:67752200-67753600	Enhancers	Fetal Stomach	stomach
38	chr12:67752200-67753600	Enhancers	NH-A	brain
39	chr12:67752200-67753600	Enhancers	NHLF	lung

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