Variant report

Variant	rs2065361
Chromosome Location	chr6:44335730-44335731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10948132	0.95[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs10948134	0.94[ASW][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs1122627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1411903	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1411904	0.83[CHB][hapmap];0.85[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs1909887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2221224	0.81[GIH][hapmap]
rs4714782	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4714784	0.94[ASW][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs4714785	0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs6935417	0.84[AFR][1000 genomes]
rs6935721	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7738562	0.89[AFR][1000 genomes]
rs7760813	0.87[AFR][1000 genomes]
rs7769100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7769128	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9381315	0.90[AFR][1000 genomes]
rs9462982	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9462983	0.82[EUR][1000 genomes]
rs9472261	0.80[EUR][1000 genomes]
rs9472263	0.83[YRI][hapmap];0.89[AFR][1000 genomes]
rs950230	0.94[ASW][hapmap];0.90[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1794353	chr6:44333489-44350716	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2065361	MRPL14	cis	parietal	SCAN
rs2065361	CD2AP	cis	cerebellum	SCAN
rs2065361	MED20	cis	parietal	SCAN
rs2065361	RRP36	cis	cerebellum	SCAN
rs2065361	PEX6	cis	cerebellum	SCAN
rs2065361	SLC25A27	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44335200-44335800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:44335200-44335800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:44335200-44335800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:44335400-44336000	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:44335400-44340800	Weak transcription	Liver	Liver
6	chr6:44335600-44336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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