Variant report

Variant	rs12740498
Chromosome Location	chr1:78960578-78960579
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489787	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058120	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12082394	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094298	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12725125	1.00[ASN][1000 genomes]
rs12748050	0.97[ASN][1000 genomes]
rs1322933	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322934	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322935	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28832602	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33994937	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34012602	0.92[ASN][1000 genomes]
rs34077564	1.00[ASN][1000 genomes]
rs34490913	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34528585	1.00[ASN][1000 genomes]
rs34572897	1.00[ASN][1000 genomes]
rs34852041	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123627	1.00[ASN][1000 genomes]
rs35324676	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35978825	1.00[ASN][1000 genomes]
rs3766346	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766347	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766348	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766351	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59066408	0.86[AFR][1000 genomes]
rs61769118	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61769127	0.86[AFR][1000 genomes]
rs61769128	0.86[AFR][1000 genomes]
rs61769135	0.86[AFR][1000 genomes]
rs61769136	0.86[AFR][1000 genomes]
rs61769139	0.86[AFR][1000 genomes]
rs6700362	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672561	0.97[ASN][1000 genomes]
rs67351117	0.97[ASN][1000 genomes]
rs72673924	1.00[ASN][1000 genomes]
rs72673925	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv871260	chr1:78957859-78976570	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78956200-78961400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:78957800-78961600	Weak transcription	HSMM	muscle
3	chr1:78957800-78961600	Weak transcription	HSMMtube	muscle
4	chr1:78957800-78966000	Weak transcription	Ovary	ovary
5	chr1:78957800-78966000	Weak transcription	Pancreas	Pancrea
6	chr1:78958000-78962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:78958000-78965600	Weak transcription	NHLF	lung
8	chr1:78958600-78961200	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:78958800-78966200	Weak transcription	Gastric	stomach
10	chr1:78959400-78961600	Active TSS	NHDF-Ad	bronchial
11	chr1:78959600-78960600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:78959800-78960800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:78959800-78960800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:78959800-78961200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:78959800-78963200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:78960200-78960600	Weak transcription	Osteobl	bone
17	chr1:78960400-78960800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:78960400-78961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:78960400-78963400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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