Variant report

Variant	rs4840383
Chromosome Location	chr8:8835530-8835531
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	chr8:8829651..8832164-chr8:8833894..8836352,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10103953	0.82[AMR][1000 genomes]
rs10104303	0.95[ASN][1000 genomes]
rs10105455	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10113530	0.82[AMR][1000 genomes]
rs10113609	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1025394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1025395	0.94[ASN][1000 genomes]
rs1036081	0.86[ASN][1000 genomes]
rs1045529	0.87[CHD][hapmap]
rs11782281	0.88[CHB][hapmap]
rs12677456	0.83[ASN][1000 genomes]
rs12681075	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12682403	0.86[ASN][1000 genomes]
rs13265205	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1562211	0.87[CHD][hapmap]
rs17155071	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2044387	0.81[JPT][hapmap]
rs2044388	0.89[CHB][hapmap]
rs2082210	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2084076	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2288669	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2288671	0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2288672	0.89[JPT][hapmap]
rs2409117	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2409118	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2409119	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs28397127	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28490389	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28693452	0.86[ASN][1000 genomes]
rs2915251	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2915252	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2915253	0.84[ASN][1000 genomes]
rs2921379	0.82[CHB][hapmap]
rs2953800	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2953801	0.84[ASN][1000 genomes]
rs2953808	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs2956242	0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2956243	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2956244	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2979246	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2979256	1.00[JPT][hapmap]
rs2979260	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs2979261	0.91[JPT][hapmap]
rs2979263	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2979264	0.83[ASN][1000 genomes]
rs2979265	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2979266	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs35076339	0.88[ASN][1000 genomes]
rs4081881	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4433148	0.86[ASN][1000 genomes]
rs4472520	0.84[ASN][1000 genomes]
rs4551361	0.86[ASN][1000 genomes]
rs4601317	0.86[ASN][1000 genomes]
rs4636210	0.86[ASN][1000 genomes]
rs4841083	1.00[JPT][hapmap]
rs4841085	0.88[CHB][hapmap]
rs55654856	0.85[ASN][1000 genomes]
rs57552272	0.86[ASN][1000 genomes]
rs58254294	0.86[ASN][1000 genomes]
rs58604216	0.85[ASN][1000 genomes]
rs60664964	0.86[ASN][1000 genomes]
rs62492945	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6422353	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs67831654	0.85[ASN][1000 genomes]
rs68132987	0.86[ASN][1000 genomes]
rs68159296	0.86[ASN][1000 genomes]
rs6983008	0.86[ASN][1000 genomes]
rs6983030	0.86[ASN][1000 genomes]
rs6983503	0.86[ASN][1000 genomes]
rs6983504	0.86[ASN][1000 genomes]
rs6987223	0.86[ASN][1000 genomes]
rs6987558	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs6990532	0.86[ASN][1000 genomes]
rs6992896	0.86[ASN][1000 genomes]
rs7001457	0.96[ASN][1000 genomes]
rs7001518	0.85[ASN][1000 genomes]
rs7005133	0.83[CHB][hapmap]
rs7006089	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7006526	0.86[ASN][1000 genomes]
rs7006798	0.88[ASN][1000 genomes]
rs7012685	0.84[ASN][1000 genomes]
rs7012954	0.86[ASN][1000 genomes]
rs7012984	0.86[ASN][1000 genomes]
rs7015461	0.89[EUR][1000 genomes]
rs73195758	0.85[ASN][1000 genomes]
rs73195780	0.86[ASN][1000 genomes]
rs73518370	0.86[ASN][1000 genomes]
rs7357590	0.82[ASN][1000 genomes]
rs7357601	0.85[ASN][1000 genomes]
rs7813388	0.94[CHB][hapmap]
rs7839585	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs987537	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs987538	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4840383	AGPAT5	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8821200-8835600	Weak transcription	Gastric	stomach
3	chr8:8832200-8835600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:8834800-8835600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:8835000-8836600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:8835200-8837800	Weak transcription	Lung	lung
7	chr8:8835400-8835800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr8:8835400-8835800	Flanking Active TSS	Liver	Liver
9	chr8:8835400-8836000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr8:8835400-8836600	ZNF genes & repeats	HepG2	liver

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