Variant report

Variant	rs8036468
Chromosome Location	chr15:34506803-34506804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:34506226-34507102	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr15:34506032-34506866	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr15:34506303-34506840	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr15:34506326-34506907	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF7	chr15:34506392-34507018	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:34506402-34506938	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:34506321-34506845	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr15:34506239-34506880	H1-hESC	embryonic stem cell:	n/a	chr15:34506545-34506555
9	TAF1	chr15:34506316-34506911	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:34506328-34506836	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr15:34506290-34506844	H1-hESC	embryonic stem cell:	n/a	chr15:34506546-34506557
12	ZNF143	chr15:34506039-34506841	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP1	chr15:34506136-34506834	H1-hESC	embryonic stem cell:	n/a	chr15:34506412-34506422 chr15:34506411-34506423 chr15:34506546-34506555 chr15:34506542-34506556 chr15:34506412-34506421 chr15:34506411-34506423 chr15:34506545-34506557
14	POLR2A	chr15:34506436-34506916	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr15:34506274-34506988	H1-hESC	embryonic stem cell:	n/a	chr15:34506412-34506422 chr15:34506411-34506423 chr15:34506546-34506555 chr15:34506542-34506556 chr15:34506412-34506421 chr15:34506411-34506423 chr15:34506545-34506557

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34500965..34503586-chr15:34505222..34506873,2	K562	blood:
2	chr15:34402294..34404744-chr15:34506028..34509076,3	MCF-7	breast:

Variant related genes	Relation type
KATNBL1	TF binding region
ENSG00000134152	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10775222	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs10851952	1.00[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851955	0.94[ASN][1000 genomes]
rs10851964	0.81[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap]
rs11073010	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11073014	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11073019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1133154	0.83[CHD][hapmap]
rs11631981	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11635964	0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11636442	0.93[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.80[TSI][hapmap]
rs11852537	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11854686	0.85[ASN][1000 genomes]
rs11857205	0.85[ASN][1000 genomes]
rs11857684	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11858408	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050753	0.83[CHD][hapmap]
rs12437551	0.84[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12441003	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12442758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591181	0.84[JPT][hapmap]
rs12591315	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12594077	0.86[CHB][hapmap]
rs12917397	0.95[ASN][1000 genomes]
rs16958835	0.86[CHD][hapmap]
rs16958878	0.83[CHD][hapmap]
rs17236777	0.83[CHD][hapmap]
rs17236784	0.82[CHD][hapmap]
rs17817806	0.86[CHD][hapmap]
rs1978810	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2244040	0.86[CHD][hapmap];0.86[MEX][hapmap]
rs2290940	0.86[CHD][hapmap]
rs2290941	0.86[CHD][hapmap]
rs2290942	0.86[CHD][hapmap]
rs28652966	0.90[ASN][1000 genomes]
rs4238572	0.83[CHD][hapmap]
rs4381574	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4530104	0.80[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap]
rs4577050	0.80[JPT][hapmap]
rs4780227	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4780229	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4780231	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs4780232	0.83[EUR][1000 genomes]
rs4780233	0.86[MEX][hapmap]
rs56731918	0.89[ASN][1000 genomes]
rs57502425	0.83[ASN][1000 genomes]
rs58875083	0.89[ASN][1000 genomes]
rs6495619	0.84[ASN][1000 genomes]
rs6495620	0.82[ASN][1000 genomes]
rs6495621	0.85[ASN][1000 genomes]
rs6495622	0.87[GIH][hapmap]
rs6495625	0.87[ASN][1000 genomes]
rs7164448	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7168619	0.83[ASN][1000 genomes]
rs7168761	0.94[CHD][hapmap];0.83[ASN][1000 genomes]
rs7174014	0.84[ASN][1000 genomes]
rs7174442	0.86[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap]
rs7178002	0.89[CHD][hapmap]
rs7178203	0.86[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap]
rs7178988	0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs7180200	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7181687	0.86[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs7181902	0.86[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs8025406	0.93[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap]
rs8025730	0.86[CHB][hapmap]
rs8026939	0.90[ASN][1000 genomes]
rs8027499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8027830	0.89[ASN][1000 genomes]
rs8028027	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8034315	0.89[ASN][1000 genomes]
rs8035493	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs8035954	0.82[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap]
rs8040071	0.97[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs8040732	0.93[CHB][hapmap];0.81[CHD][hapmap];0.82[MEX][hapmap]
rs8041586	0.80[ASN][1000 genomes]
rs8041977	0.86[ASN][1000 genomes]
rs8043216	0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9972505	0.86[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];0.89[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	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers 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	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8036468	NOLA3	cis	multi-tissue	Pritchard
rs8036468	TRPM1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34502600-34510000	Weak transcription	NHLF	lung
2	chr15:34504600-34507200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr15:34505000-34510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:34506000-34507000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:34506000-34507000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr15:34506000-34507200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr15:34506000-34507200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:34506200-34507200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:34506200-34507200	Enhancers	Fetal Thymus	thymus
10	chr15:34506400-34507000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr15:34506400-34507000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr15:34506600-34507000	Enhancers	K562	blood
13	chr15:34506600-34507200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr15:34506600-34507200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:34506800-34507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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