Variant report

Variant	rs4530013
Chromosome Location	chr13:75984725-75984726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1028793	1.00[ASN][1000 genomes]
rs10507830	1.00[JPT][hapmap]
rs1105687	1.00[ASN][1000 genomes]
rs1408928	1.00[ASN][1000 genomes]
rs17064386	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064454	1.00[JPT][hapmap]
rs2025620	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2031505	1.00[JPT][hapmap]
rs2031506	1.00[JPT][hapmap]
rs4280128	1.00[ASN][1000 genomes]
rs4340196	1.00[JPT][hapmap]
rs4883997	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4885295	1.00[JPT][hapmap]
rs4885298	1.00[JPT][hapmap]
rs5021641	1.00[CHB][hapmap]
rs7321494	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7990050	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992747	1.00[CHB][hapmap]
rs7998651	1.00[CHB][hapmap]
rs9318344	1.00[ASN][1000 genomes]
rs9530433	0.94[ASN][1000 genomes]
rs9530434	1.00[ASN][1000 genomes]
rs9573531	1.00[CHB][hapmap]
rs9573539	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593081	1.00[JPT][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75973400-75987200	Weak transcription	Gastric	stomach
2	chr13:75977400-75990600	Weak transcription	Brain Anterior Caudate	brain
3	chr13:75979800-75989400	Weak transcription	HSMM	muscle
4	chr13:75980800-75985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:75980800-75986400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:75980800-75989200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:75981000-75990600	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:75981200-75990800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:75981400-75985200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:75981800-75985600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:75982000-75985200	Weak transcription	HepG2	liver
12	chr13:75982000-75988200	Weak transcription	Pancreas	Pancrea
13	chr13:75982000-75988400	Weak transcription	Psoas Muscle	Psoas
14	chr13:75983000-75984800	Enhancers	Fetal Heart	heart
15	chr13:75984200-75987200	Enhancers	Adipose Nuclei	Adipose
16	chr13:75984200-75987600	Enhancers	Ovary	ovary
17	chr13:75984600-75986400	Weak transcription	Left Ventricle	heart
18	chr13:75984600-75987000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:75984600-75987000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:75984600-75988000	Weak transcription	GM12878-XiMat	blood
21	chr13:75984600-75990600	Weak transcription	Lung	lung
22	chr13:75984600-75990600	Weak transcription	Right Atrium	heart

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