Variant report

Variant	rs71451530
Chromosome Location	chr12:41855073-41855074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12822018	0.94[ASN][1000 genomes]
rs17129378	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129392	0.94[ASN][1000 genomes]
rs17129456	0.83[EUR][1000 genomes]
rs17578886	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17768388	0.85[EUR][1000 genomes]
rs1902905	0.90[ASN][1000 genomes]
rs2468313	0.92[ASN][1000 genomes]
rs34057539	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34931927	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032376	0.84[EUR][1000 genomes]
rs35753665	0.85[EUR][1000 genomes]
rs36020206	0.82[EUR][1000 genomes]
rs36038624	0.92[ASN][1000 genomes]
rs73130614	0.98[ASN][1000 genomes]
rs7957589	0.94[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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41852800-41857800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:41853400-41857600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:41853400-41860200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:41853800-41859200	Weak transcription	Fetal Lung	lung
7	chr12:41854200-41855200	Enhancers	Brain Substantia Nigra	brain
8	chr12:41854400-41855400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:41854800-41855200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:41855000-41859400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:41855000-41860600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:41855000-41861000	Weak transcription	Brain Anterior Caudate	brain

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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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