Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75964383..75965944-chr1:75967209..75969996,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10493575	1.00[JPT][hapmap]
rs11578532	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap]
rs12401896	1.00[JPT][hapmap]
rs12405357	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12408190	1.00[JPT][hapmap]
rs12410333	1.00[JPT][hapmap]
rs12411159	1.00[JPT][hapmap]
rs1443845	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap]
rs17303788	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap]
rs17584320	1.00[JPT][hapmap]
rs17644957	1.00[JPT][hapmap]
rs184159	1.00[JPT][hapmap]
rs1857353	1.00[JPT][hapmap]
rs1857354	1.00[JPT][hapmap]
rs190024	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1913118	1.00[JPT][hapmap]
rs1936359	1.00[JPT][hapmap]
rs2024773	1.00[JPT][hapmap]
rs2040079	1.00[JPT][hapmap]
rs2040082	1.00[JPT][hapmap]
rs211688	1.00[JPT][hapmap]
rs211702	1.00[JPT][hapmap]
rs211744	1.00[JPT][hapmap]
rs211752	1.00[JPT][hapmap]
rs211771	1.00[JPT][hapmap]
rs2779490	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs449394	1.00[JPT][hapmap]
rs4540592	1.00[JPT][hapmap]
rs4949855	1.00[JPT][hapmap]
rs6662665	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7541214	0.81[EUR][1000 genomes]
rs983331	1.00[JPT][hapmap]

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12401888	SLC44A5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75966400-75969400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:75966800-75968800	Enhancers	Brain Germinal Matrix	brain
3	chr1:75966800-75969000	Enhancers	Fetal Brain Female	brain
4	chr1:75967000-75969600	Enhancers	Fetal Brain Male	brain
5	chr1:75967200-75968000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:75967200-75969600	Enhancers	K562	blood
7	chr1:75967400-75967800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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