Variant report

Variant	rs7591480
Chromosome Location	chr2:213040865-213040866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12694265	0.96[ASN][1000 genomes]
rs13029563	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs13030421	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13035998	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1402765	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1402766	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1464449	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1521648	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1521653	0.88[JPT][hapmap]
rs2103002	0.96[ASN][1000 genomes]
rs2371477	0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs6736654	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6741280	0.96[ASN][1000 genomes]
rs6751662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6752323	1.00[JPT][hapmap]
rs7594859	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs939223	0.85[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs939664	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213037800-213041200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213040000-213041400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:213040400-213041600	Enhancers	Fetal Heart	heart
4	chr2:213040600-213041000	Enhancers	Brain Substantia Nigra	brain
5	chr2:213040600-213041600	Enhancers	Hela-S3	cervix
6	chr2:213040800-213041200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:213040800-213041200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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