Variant report

Variant	rs4310166
Chromosome Location	chr8:10763736-10763737
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	chr8:10763108..10765386-chr8:10767058..10768941,2	K562	blood:
2	chr8:10760620..10764608-chr8:10766304..10768558,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10503409	1.00[CHD][hapmap]
rs11250089	1.00[ASN][1000 genomes]
rs11776368	1.00[CHD][hapmap]
rs11786713	1.00[CHB][hapmap]
rs11986744	1.00[ASN][1000 genomes]
rs11990229	1.00[ASN][1000 genomes]
rs11997941	1.00[CHB][hapmap]
rs11998382	1.00[CHD][hapmap]
rs12156345	1.00[CHD][hapmap];0.82[YRI][hapmap]
rs12375394	1.00[CHD][hapmap]
rs12750	1.00[CHD][hapmap]
rs13261103	1.00[CHB][hapmap]
rs13275368	1.00[CHB][hapmap]
rs13277664	1.00[ASN][1000 genomes]
rs13280573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152399	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17152492	1.00[CHB][hapmap]
rs17720365	1.00[CHD][hapmap]
rs17776427	1.00[CHD][hapmap]
rs17776622	1.00[CHD][hapmap]
rs17776946	1.00[CHD][hapmap]
rs1835492	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2409654	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2409655	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2409656	1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs2898244	1.00[CHB][hapmap]
rs35545799	1.00[ASN][1000 genomes]
rs4240671	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs4326350	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs4841458	1.00[CHD][hapmap]
rs6601537	1.00[CHB][hapmap]
rs6601538	1.00[CHB][hapmap]
rs6981179	1.00[ASN][1000 genomes]
rs6984171	0.93[EUR][1000 genomes]
rs6987083	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6989930	1.00[ASN][1000 genomes]
rs6993463	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6993632	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6993753	1.00[CHB][hapmap]
rs7005389	1.00[CHB][hapmap]
rs7009920	1.00[CHD][hapmap]
rs7010246	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73209946	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73209953	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209954	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753786	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7822821	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7824708	1.00[ASN][1000 genomes]
rs7838335	1.00[CHD][hapmap]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs891557	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs934325	1.00[CHB][hapmap]
rs9650658	1.00[CHD][hapmap]
rs9650659	1.00[CHD][hapmap]
rs9969476	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4310166	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs4310166	CTSB	cis	cerebellum	SCAN
rs4310166	TDH	cis	cerebellum	SCAN
rs4310166	FLJ10661	cis	cerebellum	SCAN
rs4310166	CLDN23	cis	multi-tissue	Pritchard
rs4310166	DEFB134	cis	cerebellum	SCAN
rs4310166	MFHAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10761600-10765400	Weak transcription	Pancreas	Pancrea
2	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
3	chr8:10763600-10763800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:10763600-10764200	Enhancers	GM12878-XiMat	blood
5	chr8:10763600-10767000	Weak transcription	Fetal Brain Male	brain

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