Variant report

Variant	rs56024606
Chromosome Location	chr12:42188203-42188204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10506208	0.85[EUR][1000 genomes]
rs17090743	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17129764	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55935119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56129561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73126176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73128115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1047870	chr12:42158954-42254373	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
5	nsv1041975	chr12:42159517-42254373	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
6	nsv1037646	chr12:42160758-42254373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
7	nsv1042971	chr12:42170661-42205843	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42187600-42188800	Enhancers	Fetal Lung	lung
2	chr12:42187600-42189600	Enhancers	Primary hematopoietic stem cells	blood
3	chr12:42187600-42189800	Enhancers	Fetal Brain Male	brain
4	chr12:42188000-42188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:42188000-42190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:42188000-42190600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:42188200-42188600	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr12:42188200-42188800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:42188200-42188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:42188200-42189000	Enhancers	Fetal Brain Female	brain
11	chr12:42188200-42189200	Enhancers	Brain Hippocampus Middle	brain
12	chr12:42188200-42189200	Flanking Active TSS	HUVEC	blood vessel
13	chr12:42188200-42189400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:42188200-42190000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:42188200-42190200	Enhancers	Fetal Stomach	stomach

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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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