Variant report

Variant	rs6439479
Chromosome Location	chr3:134148956-134148957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2400271	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs72970240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7637832	1.00[YRI][hapmap];1.00[AMR][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1007607	chr3:134131521-134156814	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6439479	CSTB	trans	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134145200-134149200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:134145400-134149600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:134146400-134149200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:134146400-134150400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:134147800-134149200	Weak transcription	NH-A	brain
6	chr3:134147800-134149800	Weak transcription	Placenta	Placenta
7	chr3:134148000-134149800	Weak transcription	NHDF-Ad	bronchial
8	chr3:134148000-134156000	Weak transcription	NHEK	skin
9	chr3:134148200-134149000	Weak transcription	HSMM	muscle
10	chr3:134148200-134149400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:134148200-134149600	Weak transcription	NHLF	lung
12	chr3:134148200-134149800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:134148400-134149400	Weak transcription	A549	lung
14	chr3:134148400-134149800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:134148400-134159200	Weak transcription	Osteobl	bone

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Input of quick search could be:

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

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