Variant report

Variant	rs4535735
Chromosome Location	chr8:34893701-34893702
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10503969	1.00[ASN][1000 genomes]
rs10503970	1.00[ASN][1000 genomes]
rs10808338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774088	1.00[ASN][1000 genomes]
rs11779612	1.00[ASN][1000 genomes]
rs11782611	1.00[ASN][1000 genomes]
rs11785346	1.00[ASN][1000 genomes]
rs1376517	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249248	1.00[ASN][1000 genomes]
rs17249529	1.00[ASN][1000 genomes]
rs17250409	1.00[ASN][1000 genomes]
rs2012407	1.00[ASN][1000 genomes]
rs2218870	1.00[ASN][1000 genomes]
rs2405530	1.00[ASN][1000 genomes]
rs2923630	1.00[ASN][1000 genomes]
rs2923631	1.00[ASN][1000 genomes]
rs2923632	1.00[ASN][1000 genomes]
rs2923636	1.00[ASN][1000 genomes]
rs2923637	1.00[ASN][1000 genomes]
rs2923638	1.00[ASN][1000 genomes]
rs2923639	1.00[ASN][1000 genomes]
rs2923640	1.00[ASN][1000 genomes]
rs2923641	1.00[ASN][1000 genomes]
rs2923663	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981315	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981330	1.00[ASN][1000 genomes]
rs2981331	1.00[ASN][1000 genomes]
rs2981332	1.00[ASN][1000 genomes]
rs2981342	1.00[ASN][1000 genomes]
rs2981356	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269538	1.00[ASN][1000 genomes]
rs4351412	1.00[ASN][1000 genomes]
rs4527864	1.00[ASN][1000 genomes]
rs62505637	1.00[ASN][1000 genomes]
rs62505639	1.00[ASN][1000 genomes]
rs62505640	1.00[ASN][1000 genomes]
rs6468305	1.00[ASN][1000 genomes]
rs6986169	1.00[ASN][1000 genomes]
rs7011522	1.00[ASN][1000 genomes]
rs7460698	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4535735	BRF2	cis	parietal	SCAN
rs4535735	TM2D2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34891800-34893800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:34892000-34894000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:34892000-34894400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:34892200-34896200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:34892600-34893800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:34893200-34894000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:34893200-34894000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:34893600-34893800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:34893600-34894000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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