Variant report

Variant	rs7982953
Chromosome Location	chr13:75987566-75987567
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1105686	0.81[ASN][1000 genomes]
rs12429477	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268647	0.95[ASN][1000 genomes]
rs4362279	0.86[EUR][1000 genomes]
rs7337411	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995198	0.86[ASN][1000 genomes]
rs9543924	0.86[ASN][1000 genomes]
rs9565163	0.86[ASN][1000 genomes]
rs9600465	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75977400-75990600	Weak transcription	Brain Anterior Caudate	brain
2	chr13:75979800-75989400	Weak transcription	HSMM	muscle
3	chr13:75980800-75989200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:75981000-75990600	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:75981200-75990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:75982000-75988200	Weak transcription	Pancreas	Pancrea
7	chr13:75982000-75988400	Weak transcription	Psoas Muscle	Psoas
8	chr13:75984200-75987600	Enhancers	Ovary	ovary
9	chr13:75984600-75988000	Weak transcription	GM12878-XiMat	blood
10	chr13:75984600-75990600	Weak transcription	Lung	lung
11	chr13:75984600-75990600	Weak transcription	Right Atrium	heart
12	chr13:75985200-75991800	Enhancers	HepG2	liver
13	chr13:75985600-75994400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:75985800-75987800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:75986600-75988400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:75986600-75989400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:75986600-75990600	Weak transcription	Right Ventricle	heart
18	chr13:75986800-75989800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr13:75987000-75988600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr13:75987000-75990600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr13:75987200-75988000	Weak transcription	Hela-S3	cervix
22	chr13:75987200-75988200	Weak transcription	A549	lung
23	chr13:75987200-75989400	Weak transcription	Adipose Nuclei	Adipose
24	chr13:75987200-75989600	Weak transcription	HMEC	breast
25	chr13:75987200-75989800	Weak transcription	Liver	Liver
26	chr13:75987200-75990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:75987200-75990600	Weak transcription	Left Ventricle	heart
28	chr13:75987400-75987800	Weak transcription	Fetal Heart	heart
29	chr13:75987400-75987800	Weak transcription	Gastric	stomach

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