Variant report

Variant	rs17005016
Chromosome Location	chr4:81924728-81924729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10003846	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10004039	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10018517	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032338	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516736	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs11099457	0.84[EUR][1000 genomes]
rs1116521	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005020	0.81[ASN][1000 genomes]
rs17005025	1.00[JPT][hapmap]
rs1960445	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088187	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201544	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416900	0.84[EUR][1000 genomes]
rs28420618	0.81[EUR][1000 genomes]
rs2868122	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903747	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458448	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693782	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693783	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693791	0.81[ASN][1000 genomes]
rs56787802	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57339266	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814223	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6827935	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6845445	0.94[GIH][hapmap];1.00[JPT][hapmap]
rs72866930	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307776	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963322	0.84[EUR][1000 genomes]
rs963857	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3412549	chr4:81834479-81951850	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1006466	chr4:81888983-82009675	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17005016	NCRNA00247	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81924000-81925600	Enhancers	Primary B cells from cord blood	blood
2	chr4:81924000-81925600	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:81924000-81925800	Enhancers	Fetal Intestine Large	intestine
4	chr4:81924000-81926200	Enhancers	Fetal Intestine Small	intestine
5	chr4:81924600-81925000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:81924600-81925000	Flanking Active TSS	GM12878-XiMat	blood
7	chr4:81924600-81925200	Enhancers	Fetal Heart	heart
8	chr4:81924600-81925400	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:81924600-81926400	Enhancers	Brain Germinal Matrix	brain

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