Variant report

Variant	rs72851319
Chromosome Location	chr2:142256667-142256668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13023092	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13027965	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17613870	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17616445	0.87[EUR][1000 genomes]
rs34519660	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35187841	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35889742	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4284765	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4456644	0.87[ASN][1000 genomes]
rs4574058	0.81[EUR][1000 genomes]
rs4625846	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56146396	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6725403	0.88[ASN][1000 genomes]
rs72485545	0.84[ASN][1000 genomes]
rs72849004	0.87[ASN][1000 genomes]
rs72849005	0.86[ASN][1000 genomes]
rs72849042	0.87[ASN][1000 genomes]
rs72849648	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv875243	chr2:142219033-142259592	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv459607	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv583207	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv459618	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv583209	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv821740	chr2:142255019-142259467	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv441788	chr2:142255282-142257002	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:142254800-142257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142255000-142256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:142255600-142257000	Enhancers	NH-A	brain
6	chr2:142256000-142257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:142256000-142257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:142256000-142257800	Enhancers	Fetal Heart	heart
9	chr2:142256000-142258800	Weak transcription	Dnd41	blood
10	chr2:142256400-142257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	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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