Variant report

Variant	rs898648
Chromosome Location	chr8:20960490-20960491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20950968..20952803-chr8:20959075..20960715,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10111769	0.96[ASN][1000 genomes]
rs10112502	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10503698	0.85[ASN][1000 genomes]
rs11784441	0.80[ASN][1000 genomes]
rs11990863	0.81[ASN][1000 genomes]
rs11996651	0.82[ASN][1000 genomes]
rs12674821	0.81[ASN][1000 genomes]
rs12675109	0.81[ASN][1000 genomes]
rs12676979	0.81[ASN][1000 genomes]
rs12677314	0.85[ASN][1000 genomes]
rs12678981	0.83[ASN][1000 genomes]
rs12679819	0.83[ASN][1000 genomes]
rs12679855	0.84[ASN][1000 genomes]
rs12680270	0.82[ASN][1000 genomes]
rs12680287	0.83[ASN][1000 genomes]
rs12681224	0.80[ASN][1000 genomes]
rs13250583	0.80[ASN][1000 genomes]
rs13258422	0.80[ASN][1000 genomes]
rs13276143	0.87[ASN][1000 genomes]
rs13282584	0.81[ASN][1000 genomes]
rs1563919	0.82[ASN][1000 genomes]
rs1563920	0.82[ASN][1000 genomes]
rs1563921	0.82[ASN][1000 genomes]
rs17605964	0.81[ASN][1000 genomes]
rs1841510	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2631894	0.81[ASN][1000 genomes]
rs34133224	0.84[ASN][1000 genomes]
rs34402513	0.83[ASN][1000 genomes]
rs35089394	0.81[ASN][1000 genomes]
rs35256844	0.82[ASN][1000 genomes]
rs35393501	0.96[ASN][1000 genomes]
rs35508548	0.88[ASN][1000 genomes]
rs35523999	0.81[ASN][1000 genomes]
rs35842344	0.85[ASN][1000 genomes]
rs35923081	0.96[ASN][1000 genomes]
rs3903353	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4739209	0.82[ASN][1000 genomes]
rs57399105	0.85[ASN][1000 genomes]
rs59048764	0.87[ASN][1000 genomes]
rs7015657	0.92[ASN][1000 genomes]

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	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831260	chr8:20907266-21097125	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv469878	chr8:20955260-21128307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv482339	chr8:20955260-21128307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs898648	DOK2	cis	lymphoblastoid	seeQTL
rs898648	LGI3	cis	parietal	SCAN
rs898648	GFRA2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20959800-20960800	Weak transcription	Fetal Brain Female	brain
2	chr8:20960200-20961200	Enhancers	GM12878-XiMat	blood
3	chr8:20960200-20962400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:20960400-20960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:20960400-20961200	Enhancers	Primary hematopoietic stem cells	blood

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