Variant report

Variant	rs55994689
Chromosome Location	chr12:41404238-41404239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506181	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832384	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11834513	0.91[ASN][1000 genomes]
rs1372540	0.81[AMR][1000 genomes]
rs1434686	0.97[ASN][1000 genomes]
rs1442191	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1442194	0.84[AMR][1000 genomes]
rs17128977	0.91[AMR][1000 genomes]
rs17128987	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17128997	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797980	0.97[ASN][1000 genomes]
rs1797982	0.97[ASN][1000 genomes]
rs448780	0.97[ASN][1000 genomes]
rs55927654	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56333303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73111395	0.82[AMR][1000 genomes]
rs73116958	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73116975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41395000-41405200	Weak transcription	Ovary	ovary
3	chr12:41399000-41404400	Weak transcription	Aorta	Aorta
4	chr12:41399000-41404800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:41401400-41406200	ZNF genes & repeats	Fetal Lung	lung
6	chr12:41402800-41405200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:41403600-41406400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:41404000-41404400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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