Variant report

Variant	rs9996753
Chromosome Location	chr4:119093219-119093220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10001926	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10002634	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008013	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014055	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014957	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016206	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016301	0.97[ASN][1000 genomes]
rs10018844	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033927	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028091	0.80[ASN][1000 genomes]
rs1045817	0.93[ASN][1000 genomes]
rs11721634	0.80[ASN][1000 genomes]
rs11723877	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723996	0.93[ASN][1000 genomes]
rs11726746	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726838	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727684	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727817	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728941	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730327	0.80[ASN][1000 genomes]
rs11730687	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731179	0.93[ASN][1000 genomes]
rs11734145	0.93[ASN][1000 genomes]
rs11930782	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933280	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934183	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944227	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945329	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945537	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945882	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947244	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947630	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114867	0.97[ASN][1000 genomes]
rs13129847	0.97[ASN][1000 genomes]
rs13435006	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523744	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523745	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1589718	0.97[ASN][1000 genomes]
rs17515832	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516430	0.80[ASN][1000 genomes]
rs17594054	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594243	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829910	0.85[AFR][1000 genomes]
rs1996725	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030633	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030634	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204269	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271577	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271578	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272160	0.93[ASN][1000 genomes]
rs28396217	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661939	0.93[ASN][1000 genomes]
rs3817274	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546315	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007507	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56258393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305917	0.80[ASN][1000 genomes]
rs56339949	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390335	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57605165	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58798110	1.00[ASN][1000 genomes]
rs60858456	0.93[ASN][1000 genomes]
rs61342457	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61443542	1.00[ASN][1000 genomes]
rs62326151	1.00[ASN][1000 genomes]
rs6534088	0.93[ASN][1000 genomes]
rs6822408	0.93[ASN][1000 genomes]
rs6822996	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824418	0.83[AFR][1000 genomes]
rs6842372	1.00[ASN][1000 genomes]
rs6842689	1.00[ASN][1000 genomes]
rs6853879	0.97[ASN][1000 genomes]
rs6855052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855536	0.90[ASN][1000 genomes]
rs6856076	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608347	0.97[ASN][1000 genomes]
rs71608349	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907147	0.93[ASN][1000 genomes]
rs72907175	0.93[ASN][1000 genomes]
rs72909175	1.00[ASN][1000 genomes]
rs72909186	1.00[ASN][1000 genomes]
rs72917104	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917146	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917175	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917179	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661522	0.97[ASN][1000 genomes]
rs7685455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992827	0.97[ASN][1000 genomes]
rs9996762	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9996753	SNHG8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119089400-119093400	Genic enhancers	Dnd41	blood
2	chr4:119092200-119093400	Enhancers	Primary T cells from cord blood	blood
3	chr4:119092400-119093400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:119092400-119094400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:119092800-119094000	Weak transcription	NHLF	lung
6	chr4:119092800-119095200	Weak transcription	Thymus	Thymus
7	chr4:119093000-119094400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:119093000-119094400	Weak transcription	Fetal Thymus	thymus
9	chr4:119093000-119096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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