Variant report

Variant	rs17135585
Chromosome Location	chr5:112712346-112712347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1116546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135496	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236486	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241728	0.88[AFR][1000 genomes]
rs73244758	1.00[AMR][1000 genomes]
rs73250473	1.00[AFR][1000 genomes];1.00[AMR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112700800-112718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:112708000-112713800	Weak transcription	HMEC	breast
4	chr5:112708000-112714000	Weak transcription	NHEK	skin
5	chr5:112708000-112716200	Weak transcription	Fetal Kidney	kidney
6	chr5:112708600-112713400	Weak transcription	HUVEC	blood vessel
7	chr5:112710600-112714200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112711000-112713200	Enhancers	Dnd41	blood
9	chr5:112711400-112713000	Bivalent Enhancer	Primary T cells from cord blood	blood
10	chr5:112711400-112713400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:112711400-112716200	Weak transcription	NH-A	brain
12	chr5:112711600-112714200	Weak transcription	Fetal Stomach	stomach
13	chr5:112711800-112715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:112711800-112716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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