Variant report

Variant	rs10032323
Chromosome Location	chr4:110567473-110567474
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	chr4:110566516..110569395-chr4:110734588..110736719,2	K562	blood:

Variant related genes	Relation type
ENSG00000272795	Chromatin interaction
ENSG00000109534	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10010159	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10020263	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1008326	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029449	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1029450	0.81[ASN][1000 genomes]
rs1029451	0.81[ASN][1000 genomes]
rs11098039	0.80[ASN][1000 genomes]
rs11098040	0.80[ASN][1000 genomes]
rs11931318	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498588	0.82[JPT][hapmap]
rs12504296	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12504784	0.88[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12511995	0.80[ASN][1000 genomes]
rs12646055	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs13103167	0.87[CHD][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs13151303	0.82[JPT][hapmap]
rs2079131	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2107050	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2107051	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2285712	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3181191	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs3182325	0.94[ASN][1000 genomes]
rs34925690	0.81[ASN][1000 genomes]
rs35838666	0.81[ASN][1000 genomes]
rs3733611	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs3756256	0.81[ASN][1000 genomes]
rs3796911	0.82[JPT][hapmap]
rs3796912	0.82[JPT][hapmap]
rs4698744	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4698745	0.95[ASN][1000 genomes]
rs4698747	0.93[ASN][1000 genomes]
rs4698748	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4698774	0.85[YRI][hapmap]
rs4698776	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4698777	0.94[ASN][1000 genomes]
rs4698780	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs5030606	0.88[CEU][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60916792	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533444	0.87[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6533445	0.87[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs6816926	0.81[ASN][1000 genomes]
rs6825095	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs6831930	0.80[ASN][1000 genomes]
rs6833490	0.81[ASN][1000 genomes]
rs6834082	0.82[JPT][hapmap]
rs6834701	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6851190	0.82[JPT][hapmap]
rs6851356	0.80[ASN][1000 genomes]
rs6856535	0.81[ASN][1000 genomes]
rs726583	0.81[ASN][1000 genomes]
rs726584	0.81[ASN][1000 genomes]
rs726585	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs735642	0.81[ASN][1000 genomes]
rs763370	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs767598	0.95[ASN][1000 genomes]
rs7699736	0.81[ASN][1000 genomes]
rs7699969	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9990765	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9993532	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9996648	0.81[ASN][1000 genomes]
rs9996730	0.82[JPT][hapmap];0.81[ASN][1000 genomes]

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10032323	CASP6	cis	parietal	SCAN
rs10032323	CASP6	cis	cerebellum	SCAN
rs10032323	RBMX2	trans	parietal	SCAN
rs10032323	LARP7	cis	parietal	SCAN
rs10032323	CCDC109B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:110546600-110580600	Weak transcription	Thymus	Thymus
3	chr4:110550600-110569200	Weak transcription	GM12878-XiMat	blood
4	chr4:110562400-110569000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:110562800-110569400	Enhancers	Primary T cells from cord blood	blood
6	chr4:110564800-110568800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr4:110564800-110569400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:110565000-110569400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:110565200-110569400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr4:110565600-110569400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:110565800-110576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:110566200-110568600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:110566200-110569400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:110566600-110567800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr4:110566600-110569400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr4:110566600-110569400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:110566800-110567600	Enhancers	Right Atrium	heart
18	chr4:110566800-110567800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:110566800-110568000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr4:110566800-110569600	Strong transcription	Primary B cells from cord blood	blood
21	chr4:110567000-110567600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:110567000-110569400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:110567200-110567800	Enhancers	Stomach Mucosa	stomach
24	chr4:110567200-110568400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:110567200-110570000	Weak transcription	Fetal Thymus	thymus
26	chr4:110567400-110570000	Enhancers	Primary T helper cells fromperipheralblood	blood

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