Variant report

Variant	rs7330742
Chromosome Location	chr13:49381235-49381236
allele	C/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]
rs10220140	0.86[ASN][1000 genomes]
rs12100214	1.00[ASN][1000 genomes]
rs1597325	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17072247	0.82[ASN][1000 genomes]
rs58519664	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329905	0.92[ASN][1000 genomes]
rs7334792	0.82[ASN][1000 genomes]
rs7989311	0.82[ASN][1000 genomes]
rs8000501	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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49366800-49383000	Weak transcription	Osteobl	bone
2	chr13:49376000-49383400	Weak transcription	NHLF	lung
3	chr13:49379000-49381800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:49379800-49383000	Weak transcription	HSMM	muscle
5	chr13:49380000-49382800	Weak transcription	Hela-S3	cervix
6	chr13:49380600-49381800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:49380600-49392400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49380800-49383000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:49380800-49383000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:49381000-49382800	Weak transcription	NHDF-Ad	bronchial
11	chr13:49381000-49383000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:49381200-49382600	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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