Variant report

Variant	rs2350508
Chromosome Location	chr3:139864887-139864888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139864319..139866124-chr3:139869946..139872757,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12494072	0.82[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs12634879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316385	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317898	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs1320256	0.88[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1320259	0.95[EUR][1000 genomes]
rs1320260	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs1320261	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs2350275	0.95[EUR][1000 genomes]
rs2350276	0.88[EUR][1000 genomes]
rs2350281	0.88[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs2350509	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2882369	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs2882370	0.88[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs4317058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4596106	0.90[EUR][1000 genomes]
rs4683480	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs4683481	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes]
rs4683808	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs6439899	0.88[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6791658	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs6796645	0.88[EUR][1000 genomes]
rs7355921	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7645343	0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9283594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289599	0.88[EUR][1000 genomes]
rs939189	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs939190	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes]
rs9817495	0.88[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9818360	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9835717	1.00[CEU][hapmap]
rs9855981	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862740	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9862768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868890	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs9871857	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9873081	0.93[EUR][1000 genomes]
rs9873941	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9878323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139862600-139865400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:139862800-139865400	Weak transcription	Fetal Brain Female	brain
3	chr3:139863000-139865800	Weak transcription	HSMMtube	muscle
4	chr3:139864200-139865000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:139864200-139865800	Enhancers	Fetal Brain Male	brain
6	chr3:139864800-139865000	Enhancers	Brain Angular Gyrus	brain

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