Variant report

Variant	rs7980720
Chromosome Location	chr12:42188630-42188631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1032587	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10748317	0.82[EUR][1000 genomes]
rs10785290	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10785297	0.90[ASN][1000 genomes]
rs10880164	0.95[ASN][1000 genomes]
rs11181159	0.94[ASN][1000 genomes]
rs1390998	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1497159	0.81[ASN][1000 genomes]
rs1497188	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1497191	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1546193	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1553033	0.92[EUR][1000 genomes]
rs1845976	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4595607	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768007	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768365	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768369	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768370	0.98[EUR][1000 genomes]
rs4768374	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58568237	0.82[ASN][1000 genomes]
rs6582363	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7296376	0.95[ASN][1000 genomes]
rs7299055	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300523	0.93[ASN][1000 genomes]
rs73126166	0.98[EUR][1000 genomes]
rs73128112	0.88[EUR][1000 genomes]
rs7962219	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7968184	0.90[EUR][1000 genomes]
rs7978877	0.90[EUR][1000 genomes]
rs904075	0.81[AMR][1000 genomes];0.98[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:19 , 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	chr12:42188000-42190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:42188000-42190600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:42188200-42188800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:42188200-42188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:42188200-42189000	Enhancers	Fetal Brain Female	brain
9	chr12:42188200-42189200	Enhancers	Brain Hippocampus Middle	brain
10	chr12:42188200-42189200	Flanking Active TSS	HUVEC	blood vessel
11	chr12:42188200-42189400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:42188200-42190000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:42188200-42190200	Enhancers	Fetal Stomach	stomach
14	chr12:42188400-42189200	Enhancers	Fetal Kidney	kidney
15	chr12:42188400-42189400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:42188600-42189000	Enhancers	Brain Anterior Caudate	brain
17	chr12:42188600-42189200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:42188600-42189800	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:42188600-42192600	Enhancers	Brain Germinal Matrix	brain

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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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