Variant report

Variant	rs7839585
Chromosome Location	chr8:8854235-8854236
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8853838..8855733-chr8:8866935..8869612,2	K562	blood:

Variant related genes	Relation type
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10104303	0.87[ASN][1000 genomes]
rs10105455	0.87[ASN][1000 genomes]
rs10113609	0.87[ASN][1000 genomes]
rs1025394	0.89[ASN][1000 genomes]
rs1025395	0.88[ASN][1000 genomes]
rs1036081	0.99[ASN][1000 genomes]
rs1045529	0.85[CHB][hapmap];0.97[CHD][hapmap]
rs11782281	0.89[CHB][hapmap]
rs11784393	0.89[CHB][hapmap]
rs12681075	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12682403	0.99[ASN][1000 genomes]
rs13265205	0.83[ASN][1000 genomes]
rs1562211	0.89[CHB][hapmap];0.97[CHD][hapmap]
rs17155071	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1900102	0.89[MEX][hapmap]
rs2044387	0.81[JPT][hapmap]
rs2044388	0.89[CHB][hapmap]
rs2082210	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs2084076	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs2288669	0.83[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2288670	0.82[ASN][1000 genomes]
rs2288671	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2288672	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2409117	0.82[ASN][1000 genomes]
rs2409118	0.83[ASN][1000 genomes]
rs2409119	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28397127	0.92[ASN][1000 genomes]
rs28490389	0.87[ASN][1000 genomes]
rs28693452	0.99[ASN][1000 genomes]
rs2915248	0.83[ASN][1000 genomes]
rs2915251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2915252	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2915253	0.97[ASN][1000 genomes]
rs2921379	0.83[CHB][hapmap]
rs2953800	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2953801	0.97[ASN][1000 genomes]
rs2953808	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs2953809	0.86[ASN][1000 genomes]
rs2956242	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2956243	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2956244	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2979246	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2979256	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs2979260	0.89[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2979261	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2979262	0.84[ASN][1000 genomes]
rs2979263	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2979264	0.96[ASN][1000 genomes]
rs2979265	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2979266	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35076339	0.87[ASN][1000 genomes]
rs4081881	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4433148	0.99[ASN][1000 genomes]
rs4472520	0.97[ASN][1000 genomes]
rs4551361	0.99[ASN][1000 genomes]
rs4601317	0.99[ASN][1000 genomes]
rs4636210	0.99[ASN][1000 genomes]
rs4840383	0.85[ASN][1000 genomes]
rs4841083	1.00[JPT][hapmap]
rs4841084	0.82[ASN][1000 genomes]
rs4841085	0.88[CHB][hapmap]
rs55654856	0.98[ASN][1000 genomes]
rs57552272	0.99[ASN][1000 genomes]
rs58254294	0.99[ASN][1000 genomes]
rs58604216	0.98[ASN][1000 genomes]
rs60664964	0.99[ASN][1000 genomes]
rs62492945	0.87[ASN][1000 genomes]
rs6422353	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs67831654	0.90[ASN][1000 genomes]
rs68132987	0.99[ASN][1000 genomes]
rs68159296	0.92[ASN][1000 genomes]
rs6983008	0.99[ASN][1000 genomes]
rs6983030	0.99[ASN][1000 genomes]
rs6983503	0.99[ASN][1000 genomes]
rs6983504	0.99[ASN][1000 genomes]
rs6987223	0.99[ASN][1000 genomes]
rs6987558	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6990532	0.99[ASN][1000 genomes]
rs6992896	0.99[ASN][1000 genomes]
rs6993244	0.94[ASN][1000 genomes]
rs7001457	0.89[ASN][1000 genomes]
rs7001518	0.98[ASN][1000 genomes]
rs7005133	0.94[CHB][hapmap]
rs7006089	0.89[ASN][1000 genomes]
rs7006526	0.99[ASN][1000 genomes]
rs7006798	0.97[ASN][1000 genomes]
rs7007290	0.85[ASN][1000 genomes]
rs7012954	0.99[ASN][1000 genomes]
rs7012984	0.99[ASN][1000 genomes]
rs73195777	0.87[ASN][1000 genomes]
rs73195780	0.99[ASN][1000 genomes]
rs73518370	0.99[ASN][1000 genomes]
rs7357590	0.95[ASN][1000 genomes]
rs7357601	0.98[ASN][1000 genomes]
rs7813388	0.94[CHB][hapmap]
rs9644673	0.82[ASN][1000 genomes]
rs9644696	0.82[ASN][1000 genomes]
rs987537	0.83[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs987538	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[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	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
6	nsv824527	chr8:8853976-8855763	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7839585	CLDN23	cis	multi-tissue	Pritchard
rs7839585	MFHAS1	cis	cerebellum	SCAN
rs7839585	CTSB	cis	cerebellum	SCAN
rs7839585	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs7839585	DEFB136	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8852400-8856000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:8853000-8857000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:8853000-8858800	Weak transcription	K562	blood
5	chr8:8853200-8856200	Weak transcription	HepG2	liver
6	chr8:8853200-8859600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:8853200-8859600	Weak transcription	A549	lung
8	chr8:8853200-8859600	Weak transcription	GM12878-XiMat	blood
9	chr8:8853200-8859600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:8854000-8859800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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