Variant report

Variant	rs1438052
Chromosome Location	chr2:178719378-178719379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178692507..178694140-chr2:178718717..178720458,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10930813	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1370657	0.87[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1898588	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2573086	0.89[AFR][1000 genomes]
rs2695095	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2695096	1.00[ASW][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695106	1.00[AFR][1000 genomes]
rs2695114	0.88[AFR][1000 genomes]
rs2695720	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695721	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695723	1.00[YRI][hapmap]
rs2695725	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2695727	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2695759	0.90[AFR][1000 genomes]
rs56189218	0.95[AFR][1000 genomes]
rs56230218	0.95[AFR][1000 genomes]
rs56300810	0.88[AFR][1000 genomes]
rs6433700	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs6712039	0.95[AFR][1000 genomes]
rs6713949	1.00[AMR][1000 genomes]
rs6752913	0.86[ASW][hapmap];0.88[LWK][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs6756270	1.00[AMR][1000 genomes]
rs73972662	0.95[AFR][1000 genomes]
rs73972663	0.95[AFR][1000 genomes]
rs73972665	0.88[AFR][1000 genomes]
rs73972667	0.95[AFR][1000 genomes]
rs73972668	0.95[AFR][1000 genomes]
rs73972669	0.95[AFR][1000 genomes]
rs7570577	0.87[ASW][hapmap];0.85[MKK][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs9283485	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs934806	0.87[YRI][hapmap];1.00[AMR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv3053	chr2:178690640-178735132	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv978954	chr2:178716893-178719864	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3322845	chr2:178717331-178719879	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3347800	chr2:178717656-178719704	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178717000-178720600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:178717000-178720800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:178717400-178719400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:178719200-178720000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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