Variant report

Variant	rs1919344
Chromosome Location	chr8:35280730-35280731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10108964	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10110454	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10113220	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10503979	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10954987	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11984853	1.00[ASN][1000 genomes]
rs11987881	1.00[ASN][1000 genomes]
rs11997743	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12541372	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12679477	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358563	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1358564	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1406376	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1528705	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1528710	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1528716	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1528720	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528721	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1528722	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554864	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1590092	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1590093	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1609345	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1919336	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1919337	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1919346	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1919348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919349	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1919355	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2010451	0.98[ASN][1000 genomes]
rs2204719	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2897245	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35169691	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4492371	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4739302	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4739402	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4739406	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4739407	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4739408	0.83[ASN][1000 genomes]
rs6468316	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6468317	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6991984	0.90[EUR][1000 genomes]
rs6997453	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7013157	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7815545	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7817194	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7824542	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7827072	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7827646	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7828218	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7829022	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7839131	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv890717	chr8:35184361-35315188	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1919344	ASH2L	cis	parietal	SCAN
rs1919344	UNC5D	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35276000-35282000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:35277200-35282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:35277400-35282200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:35277400-35282200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:35277400-35282200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:35277400-35282800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:35277600-35282800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:35278200-35286200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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