Variant report

Variant	rs6983680
Chromosome Location	chr8:10901931-10901932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10100449	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10101901	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10102241	1.00[JPT][hapmap]
rs10108304	1.00[CHB][hapmap]
rs10110123	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10111751	1.00[CHB][hapmap]
rs10282848	1.00[CHB][hapmap]
rs11250110	1.00[CHB][hapmap]
rs11250111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11250120	1.00[CHB][hapmap]
rs11784312	1.00[CHB][hapmap]
rs11785788	1.00[CHB][hapmap]
rs11986748	1.00[CHB][hapmap]
rs11991121	1.00[CHB][hapmap]
rs11996027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11997616	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11998417	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12216784	1.00[CHB][hapmap]
rs17152785	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17152791	1.00[JPT][hapmap]
rs17152793	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17152795	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17152862	1.00[CHB][hapmap]
rs17152881	1.00[CHB][hapmap]
rs17152921	1.00[CHB][hapmap]
rs17152930	1.00[CHB][hapmap]
rs17152938	1.00[CHB][hapmap]
rs17152978	1.00[CHB][hapmap]
rs17155406	1.00[JPT][hapmap]
rs17722940	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17725809	1.00[CHB][hapmap]
rs17726352	1.00[CHB][hapmap]
rs17779093	1.00[CHB][hapmap]
rs2001433	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2409683	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2409732	1.00[CHB][hapmap]
rs2898254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2898258	1.00[CHB][hapmap]
rs35850128	0.94[EUR][1000 genomes]
rs35995832	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074356	1.00[CHB][hapmap]
rs4076425	1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs4270924	1.00[CHB][hapmap]
rs4349949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4370496	1.00[CHB][hapmap]
rs4386942	1.00[CHB][hapmap]
rs4841473	1.00[CHB][hapmap]
rs4841486	1.00[CHD][hapmap]
rs6601548	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6601549	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6601550	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6994928	1.00[CHB][hapmap]
rs6999969	1.00[CHB][hapmap]
rs7000298	1.00[CHB][hapmap]
rs7000431	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010099	1.00[CHB][hapmap]
rs7010126	1.00[CHB][hapmap]
rs7014291	1.00[CHB][hapmap]
rs7015045	1.00[JPT][hapmap]
rs7016361	1.00[CHB][hapmap]
rs7350066	1.00[CHB][hapmap]
rs7350072	1.00[CHB][hapmap]
rs7820231	1.00[CHB][hapmap]
rs7820777	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7822400	1.00[CHB][hapmap]
rs7833741	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7838051	1.00[CHB][hapmap]
rs7840980	1.00[CHB][hapmap]
rs7841435	1.00[CHB][hapmap]
rs7842214	1.00[CHB][hapmap]
rs7845088	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs9329237	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6983680	DEFB136	cis	parietal	SCAN
rs6983680	FLJ10661	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10889800-10910800	Weak transcription	HSMMtube	muscle
2	chr8:10897400-10905600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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