Variant report

Variant	rs11178970
Chromosome Location	chr12:41297064-41297065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10219667	1.00[ASN][1000 genomes]
rs10467081	1.00[ASN][1000 genomes]
rs10467178	1.00[ASN][1000 genomes]
rs10784938	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178754	1.00[ASN][1000 genomes]
rs11178926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297752	1.00[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299167	1.00[ASN][1000 genomes]
rs12300069	1.00[ASN][1000 genomes]
rs12307310	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313239	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314887	1.00[ASN][1000 genomes]
rs17128887	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128970	1.00[ASN][1000 genomes]
rs17128983	1.00[ASN][1000 genomes]
rs60183405	1.00[ASN][1000 genomes]
rs60302627	1.00[ASN][1000 genomes]
rs60449393	1.00[ASN][1000 genomes]
rs9652035	0.90[EUR][1000 genomes];1.00[ASN][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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41285000-41304600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:41296000-41297200	Enhancers	A549	lung
3	chr12:41296600-41297600	Enhancers	NHEK	skin
4	chr12:41296800-41297200	Enhancers	HMEC	breast
5	chr12:41296800-41297400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:41296800-41297400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41296800-41297400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr12:41296800-41297600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:41297000-41297200	Enhancers	Brain Hippocampus Middle	brain
10	chr12:41297000-41297400	Enhancers	Brain Angular Gyrus	brain
11	chr12:41297000-41297400	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:41297000-41297400	Enhancers	Ovary	ovary

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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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