Variant report

Variant	rs10503253
Chromosome Location	chr8:4180844-4180845
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10046752	0.85[ASN][1000 genomes]
rs10046757	0.92[ASN][1000 genomes]
rs10046758	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10046759	0.89[ASN][1000 genomes]
rs10096058	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10103330	0.94[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10104209	0.82[JPT][hapmap]
rs10108628	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10108725	0.89[CEU][hapmap]
rs10108772	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10113290	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10503254	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs12544891	0.86[ASN][1000 genomes]
rs12546471	0.95[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs13261217	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13269120	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1504754	0.81[CHD][hapmap]
rs1566861	0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[ASN][1000 genomes]
rs17413742	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs17413749	0.86[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs1847570	0.85[CHD][hapmap]
rs2036547	0.90[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2036548	0.95[ASN][1000 genomes]
rs2036550	0.86[CHB][hapmap]
rs2134950	0.90[ASN][1000 genomes]
rs2174358	0.94[ASN][1000 genomes]
rs4335143	0.90[EUR][1000 genomes]
rs4875334	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs4875336	0.83[CEU][hapmap]
rs7018359	0.81[CHB][hapmap]
rs9314523	0.95[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs9314525	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949269	chr8:3556145-4246903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530863	chr8:3710810-4381378	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv889924	chr8:3828138-4180844	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1034771	chr8:3969767-4255716	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1032488	chr8:4072826-4328057	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1019677	chr8:4095786-4328057	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1032152	chr8:4114483-4186701	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1015485	chr8:4127704-4272847	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv34054	chr8:4165205-4450873	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:3)

Disease	PMID	Source
Schizophrenia	21926974	GWAS catalog
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)	23453885	GWAS catalog
Schizophrenia	25056061	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10503253	ZNF596	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4171000-4188800	Weak transcription	Pancreas	Pancrea
2	chr8:4180800-4182400	Enhancers	Rectal Mucosa Donor 31	rectum

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