Variant report

Variant	rs11986748
Chromosome Location	chr8:10937853-10937854
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	chr8:10936398..10938417-chr8:10940372..10942597,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10091993	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10099881	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10100449	1.00[CHB][hapmap]
rs10105315	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10108304	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10110123	1.00[CHB][hapmap]
rs10111751	1.00[CHB][hapmap]
rs10113735	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10113808	1.00[JPT][hapmap]
rs10282848	1.00[CHB][hapmap]
rs11250110	1.00[CHB][hapmap]
rs11250111	1.00[CHB][hapmap]
rs11250114	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11250115	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11250120	1.00[CHB][hapmap]
rs11773990	1.00[JPT][hapmap]
rs11784312	1.00[CHB][hapmap]
rs11785788	1.00[CHB][hapmap]
rs11991118	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11991121	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996027	1.00[CHB][hapmap]
rs11998417	1.00[CHB][hapmap]
rs12216784	1.00[CHB][hapmap]
rs12542383	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
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]
rs17722940	1.00[CHB][hapmap]
rs17725809	1.00[CHB][hapmap]
rs17726352	1.00[CHB][hapmap]
rs17779093	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2409689	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2409691	1.00[CHD][hapmap]
rs2409694	1.00[CHD][hapmap]
rs2409732	1.00[CHB][hapmap]
rs28510951	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28719598	0.81[EUR][1000 genomes]
rs2898254	1.00[CHB][hapmap]
rs2898257	1.00[JPT][hapmap]
rs2898258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2898260	1.00[JPT][hapmap]
rs35167667	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4074356	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs4076425	1.00[CHB][hapmap]
rs4262293	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4270924	1.00[CHB][hapmap]
rs4349949	1.00[CHB][hapmap]
rs4370496	1.00[CHB][hapmap]
rs4386942	1.00[CHB][hapmap]
rs4841473	1.00[CHB][hapmap]
rs4841489	1.00[JPT][hapmap]
rs55676920	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55813668	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59724806	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60134032	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601550	1.00[CHB][hapmap]
rs66475020	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980856	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6983680	1.00[CHB][hapmap]
rs6994928	1.00[CHB][hapmap]
rs6999969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7000298	1.00[CHB][hapmap]
rs7000431	1.00[CHB][hapmap]
rs7010099	1.00[CHB][hapmap]
rs7010126	1.00[CHB][hapmap]
rs7014291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7016361	1.00[CHB][hapmap]
rs7350066	1.00[CHB][hapmap]
rs7350072	1.00[CHB][hapmap]
rs7463505	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7812573	0.80[EUR][1000 genomes]
rs7820231	1.00[CHB][hapmap]
rs7820777	1.00[CHB][hapmap]
rs7822400	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs7838051	1.00[CHB][hapmap]
rs7840068	0.83[CEU][hapmap];0.85[TSI][hapmap]
rs7840980	1.00[CHB][hapmap]
rs7841435	1.00[CHB][hapmap]
rs7842214	1.00[CHB][hapmap]
rs7845088	1.00[CHB][hapmap]
rs9329235	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9329237	1.00[CHB][hapmap]
rs9657519	1.00[CHD][hapmap]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11986748	TDH	cis	parietal	SCAN
rs11986748	FLJ10661	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10925000-10941800	Weak transcription	Right Atrium	heart
2	chr8:10925600-10944400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:10932000-10939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:10935200-10943800	Weak transcription	Brain Anterior Caudate	brain
5	chr8:10935600-10939800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:10936600-10940600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10936800-10938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:10936800-10938000	Weak transcription	NHEK	skin
9	chr8:10937000-10938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:10937800-10940000	Enhancers	HMEC	breast
11	chr8:10937800-10941000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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