Variant report

Variant	rs262130
Chromosome Location	chr6:142853486-142853487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10484733	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11155242	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11759653	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12189838	0.85[EUR][1000 genomes]
rs12190271	0.83[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs12197866	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12213892	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs13198644	0.84[EUR][1000 genomes]
rs1329705	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs17071756	0.83[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs171891	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1928528	0.84[EUR][1000 genomes]
rs2294775	0.92[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs262117	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs262118	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262120	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817928	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs4304190	0.84[EUR][1000 genomes]
rs643975	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570511	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6900087	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6900233	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs6901807	0.85[EUR][1000 genomes]
rs6903424	1.00[JPT][hapmap]
rs6906468	0.85[EUR][1000 genomes]
rs6912639	0.85[EUR][1000 genomes]
rs6922607	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7756434	0.85[EUR][1000 genomes]
rs7757571	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7765770	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7776356	0.84[EUR][1000 genomes]
rs9373347	0.84[EUR][1000 genomes]
rs9403386	0.91[CHB][hapmap];1.00[JPT][hapmap]

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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023426	chr6:142813845-142940262	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830827	chr6:142840734-143015005	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs262130	SF3B5	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142846600-142865600	Weak transcription	Right Atrium	heart
2	chr6:142852200-142853800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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