Variant report

Variant	rs1364630
Chromosome Location	chr18:11727451-11727452
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1249625	1.00[AMR][1000 genomes]
rs1262042	1.00[AMR][1000 genomes]
rs1262043	1.00[AMR][1000 genomes]
rs1272340	1.00[AMR][1000 genomes]
rs1364634	1.00[AMR][1000 genomes]
rs1647542	1.00[AMR][1000 genomes]
rs1647552	1.00[AMR][1000 genomes]
rs1863121	1.00[AMR][1000 genomes]
rs6505678	1.00[AMR][1000 genomes]
rs7230614	1.00[AMR][1000 genomes]
rs7238570	1.00[AMR][1000 genomes]
rs8088462	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv978602	chr18:11699589-11729341	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11726000-11728000	Enhancers	HMEC	breast
2	chr18:11726400-11727600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:11726400-11727600	Enhancers	NHEK	skin
4	chr18:11726400-11728400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:11727200-11728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:11727400-11733200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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