Variant report

Variant	rs1867001
Chromosome Location	chr3:19457107-19457108
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10470642	0.90[LWK][hapmap];0.83[TSI][hapmap];0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13061887	0.83[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs13092831	0.83[CEU][hapmap];0.82[GIH][hapmap];0.86[TSI][hapmap]
rs1348229	0.82[GIH][hapmap];0.81[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs1348230	0.92[TSI][hapmap];1.00[YRI][hapmap]
rs1550560	0.83[GIH][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs2197126	0.82[ASW][hapmap];0.89[GIH][hapmap]
rs4142701	0.91[CEU][hapmap];0.85[GIH][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4858318	0.89[TSI][hapmap];1.00[YRI][hapmap]
rs6549944	0.83[TSI][hapmap]
rs6549948	0.80[CEU][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs6779105	0.88[CEU][hapmap];0.85[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6799035	0.87[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs6809806	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7619551	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7630677	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9310596	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9809140	0.82[ASW][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs9860121	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9871028	0.83[CEU][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]
rs9882467	0.82[CEU][hapmap]

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	nsv517847	chr3:18845347-19483695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv948636	chr3:19335802-19856585	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv589855	chr3:19409153-19512074	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3386719	chr3:19454588-19895807	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1867001	DAZL	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19449600-19472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:19456000-19458400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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