Variant report

Variant	rs1527407
Chromosome Location	chr2:178525630-178525631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178518512..178521543-chr2:178525279..178528697,3	K562	blood:
2	chr2:178524145..178525778-chr2:178526454..178528465,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10167783	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11674779	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11678875	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11682717	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12467363	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12469884	0.82[ASN][1000 genomes]
rs12471621	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12475108	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12611503	0.82[ASN][1000 genomes]
rs12612481	0.92[ASN][1000 genomes]
rs12616259	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12990878	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12994392	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12997716	0.81[ASN][1000 genomes]
rs13008833	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13008857	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13009207	0.82[ASN][1000 genomes]
rs13034781	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1358328	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1405714	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1405717	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1405718	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1527401	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1527406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222711	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770005	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770007	0.85[ASN][1000 genomes]
rs3770008	0.92[ASN][1000 genomes]
rs3770009	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770010	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3770011	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770012	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3821006	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4144275	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144276	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4337505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470372	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893838	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55792594	0.81[ASN][1000 genomes]
rs6433684	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578325	0.85[ASN][1000 genomes]
rs7594362	0.92[ASN][1000 genomes]
rs7605493	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7605609	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7605757	0.85[ASN][1000 genomes]
rs880897	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs880898	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs880899	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178517200-178530800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:178524000-178525800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:178524200-178525800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:178524400-178525800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:178524800-178525800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:178524800-178532800	Weak transcription	Fetal Kidney	kidney
7	chr2:178524800-178533400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:178525200-178527600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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