Variant report

Variant	rs7333713
Chromosome Location	chr13:30568023-30568024
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1122694	0.84[ASN][1000 genomes]
rs12427824	0.88[ASN][1000 genomes]
rs3119823	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3119824	0.84[ASN][1000 genomes]
rs4769796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769797	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769798	0.83[ASN][1000 genomes]
rs529547	0.89[ASN][1000 genomes]
rs638330	0.98[ASN][1000 genomes]
rs647790	1.00[ASN][1000 genomes]
rs73159363	0.89[ASN][1000 genomes]
rs7324833	0.88[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' 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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30565000-30569000	Enhancers	NHDF-Ad	bronchial
2	chr13:30565000-30569400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:30565200-30568600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:30565200-30569400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:30565400-30569600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:30565800-30573000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:30567000-30569400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:30567200-30569000	Enhancers	HSMM	muscle
9	chr13:30567200-30569400	Enhancers	NHLF	lung
10	chr13:30567200-30569800	Enhancers	Osteobl	bone
11	chr13:30567400-30569400	Enhancers	HSMMtube	muscle
12	chr13:30567600-30568800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:30567600-30569600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:30567800-30568200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:30567800-30568200	Enhancers	NHEK	skin
16	chr13:30567800-30568800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:30568000-30568200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:30568000-30568200	Flanking Active TSS	NH-A	brain
19	chr13:30568000-30569200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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