Variant report

Variant	rs60702346
Chromosome Location	chr5:112712304-112712305
allele	-/CA/CACACACA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10040616	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10066985	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11241204	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13157360	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13182505	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13185592	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1353100	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17135581	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs255869	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs255875	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34561076	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4583882	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7701757	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7731564	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7737155	0.90[EUR][1000 genomes];0.91[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	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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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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