Variant report

Variant	rs58519664
Chromosome Location	chr13:49380596-49380597
allele	A/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	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597325	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17072247	0.82[ASN][1000 genomes]
rs7329905	0.92[ASN][1000 genomes]
rs7330742	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334792	0.82[ASN][1000 genomes]
rs7989311	0.82[ASN][1000 genomes]
rs8000501	0.80[EUR][1000 genomes];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:22 , 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	chr13:49378000-49380600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:49378800-49380600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr13:49378800-49380800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:49378800-49380800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr13:49379000-49380600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr13:49379000-49380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:49379000-49381000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:49379000-49381000	Enhancers	NHDF-Ad	bronchial
11	chr13:49379000-49381200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:49379000-49381800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:49379400-49380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:49379600-49380600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr13:49379600-49380800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:49379600-49380800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:49379600-49380800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:49379600-49380800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr13:49379800-49383000	Weak transcription	HSMM	muscle
20	chr13:49380000-49382800	Weak transcription	Hela-S3	cervix
21	chr13:49380200-49380800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:49380200-49380800	Enhancers	Primary monocytes fromperipheralblood	blood

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