Variant report

Variant	rs7843666
Chromosome Location	chr8:10742059-10742060
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	chr8:10734114..10739768-chr8:10740375..10743720,5	K562	blood:
2	chr8:10737387..10739768-chr8:10741802..10743720,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10090444	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10107145	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs10503409	1.00[CHD][hapmap]
rs11250086	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11250092	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs11250093	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs11776368	1.00[CHD][hapmap]
rs11783247	0.95[MEX][hapmap];0.87[TSI][hapmap]
rs11786713	1.00[CHB][hapmap]
rs11997941	1.00[CHB][hapmap]
rs11998382	1.00[CHD][hapmap]
rs12156345	1.00[CHD][hapmap]
rs12375394	1.00[CHD][hapmap]
rs12546366	0.90[MEX][hapmap]
rs12750	1.00[CHD][hapmap]
rs13261103	1.00[CHB][hapmap]
rs13270870	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13275368	1.00[CHB][hapmap]
rs13280573	1.00[CHB][hapmap]
rs17152329	1.00[CHB][hapmap]
rs17152399	1.00[CHB][hapmap]
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]
rs17778581	0.98[AMR][1000 genomes];0.99[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]
rs2898244	1.00[CHB][hapmap]
rs4240671	0.89[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4240672	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4240673	0.95[MEX][hapmap];0.87[TSI][hapmap]
rs4310166	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap]
rs4326350	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4554431	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4840525	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841458	1.00[CHD][hapmap]
rs6601537	1.00[CHB][hapmap]
rs6601538	1.00[CHB][hapmap]
rs6984496	0.85[TSI][hapmap]
rs6985109	0.81[CEU][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap]
rs6987083	1.00[CHB][hapmap]
rs6993463	1.00[CHB][hapmap]
rs6993632	1.00[CHB][hapmap]
rs6993753	1.00[CHB][hapmap]
rs6997839	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6997997	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7005389	1.00[CHB][hapmap]
rs7009920	1.00[CHD][hapmap]
rs7010246	1.00[CHB][hapmap]
rs7015168	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs7016385	0.95[MEX][hapmap];0.82[TSI][hapmap]
rs7821826	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7822821	1.00[CHB][hapmap]
rs7823296	0.84[TSI][hapmap]
rs7834121	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7834248	0.81[EUR][1000 genomes]
rs7837038	0.85[CEU][hapmap]
rs7838335	1.00[CHD][hapmap]
rs7840610	1.00[CHB][hapmap]
rs7840769	1.00[CHB][hapmap]
rs7843470	0.85[CEU][hapmap]
rs891557	1.00[CHB][hapmap]
rs934325	1.00[CHB][hapmap]
rs9650658	1.00[CHD][hapmap]
rs9650659	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7843666	DEFB136	cis	parietal	SCAN
rs7843666	MFHAS1	cis	cerebellum	SCAN
rs7843666	TDH	cis	cerebellum	SCAN
rs7843666	CTSB	cis	cerebellum	SCAN
rs7843666	FLJ10661	cis	cerebellum	SCAN
rs7843666	PRSS55	cis	cerebellum	SCAN
rs7843666	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7843666	DEFB134	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10720800-10756200	Weak transcription	Pancreas	Pancrea
2	chr8:10737600-10745000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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