Variant report

Variant	rs12618611
Chromosome Location	chr2:235098469-235098470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1013546	0.83[EUR][1000 genomes]
rs10178233	0.83[EUR][1000 genomes]
rs1029890	0.89[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs12617671	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1507520	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1860699	0.96[CEU][hapmap]
rs6431236	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6742977	0.82[AMR][1000 genomes];0.88[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12618611	SNORA75	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235096600-235099000	Weak transcription	A549	lung
2	chr2:235097400-235100200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:235097600-235098800	Enhancers	Esophagus	oesophagus
4	chr2:235097800-235098600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:235097800-235098800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:235098000-235098600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:235098000-235098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:235098000-235098800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:235098000-235099000	Enhancers	HMEC	breast
10	chr2:235098000-235099000	Flanking Active TSS	NHEK	skin
11	chr2:235098200-235098800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:235098200-235098800	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr2:235098200-235100600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:235098400-235098600	Enhancers	HSMMtube	muscle
15	chr2:235098400-235100600	Weak transcription	Fetal Thymus	thymus

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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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