Variant report

Variant	rs976013
Chromosome Location	chr5:75016943-75016944
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	FOS	chr5:75016754-75017054	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr5:75016772-75017037	Hela-S3	cervix:	n/a	chr5:75016877-75016888
3	FOXA1	chr5:75016590-75017154	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:75016721-75017068	HepG2	liver:	n/a	chr5:75016877-75016888
5	STAT3	chr5:75016783-75016985	MCF10A-Er-Src	breast:	n/a	n/a
6	TEAD4	chr5:75016629-75017131	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:75016714-75017107	HepG2	liver:	n/a	n/a
8	FOXA1	chr5:75016626-75017204	HepG2	liver:	n/a	n/a
9	MYC	chr5:75016793-75017135	MCF10A-Er-Src	breast:	n/a	n/a
10	SMC3	chr5:75016738-75017105	HepG2	liver:	n/a	n/a
11	RCOR1	chr5:75016740-75017131	HepG2	liver:	n/a	n/a
12	TCF7L2	chr5:75016622-75017132	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:75016723-75017089	HepG2	liver:	n/a	chr5:75016877-75016888
14	JUND	chr5:75016739-75017043	HepG2	liver:	n/a	n/a
15	EP300	chr5:75016643-75017095	HepG2	liver:	n/a	n/a
16	FOXA2	chr5:75016772-75017040	HepG2	liver:	n/a	n/a
17	MAFF	chr5:75016659-75017008	HepG2	liver:	n/a	n/a
18	CEBPB	chr5:75016674-75017109	HepG2	liver:	n/a	chr5:75016877-75016888
19	MYC	chr5:75016789-75017046	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:75016746-75017078	MCF10A-Er-Src	breast:	n/a	n/a
21	MXI1	chr5:75016741-75017104	HepG2	liver:	n/a	n/a
22	CEBPB	chr5:75016728-75017004	HepG2	liver:	n/a	chr5:75016877-75016888
23	FOXA1	chr5:75016620-75017130	HepG2	liver:	n/a	n/a
24	NFIC	chr5:75016715-75017115	HepG2	liver:	n/a	n/a
25	JUN	chr5:75016761-75017022	HepG2	liver:	n/a	n/a
26	MYC	chr5:75016787-75017014	NB4	blood:	n/a	n/a
27	EP300	chr5:75016673-75017154	HepG2	liver:	n/a	n/a
28	MYBL2	chr5:75016656-75017183	HepG2	liver:	n/a	n/a
29	BHLHE40	chr5:75016750-75017069	HepG2	liver:	n/a	n/a
30	FOS	chr5:75016769-75017029	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr5:75016636-75017140	HepG2	liver:	n/a	n/a
32	POLR2A	chr5:75016621-75017208	HL-60	blood:	n/a	n/a
33	POLR2A	chr5:75016914-75017116	GM12878	blood:	n/a	n/a
34	EP300	chr5:75016679-75017063	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:75016833-75017053	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:74796642..74799069-chr5:75014421..75017256,2	K562	blood:
2	chr5:75011834..75014480-chr5:75016534..75018144,2	MCF-7	breast:
3	chr5:75008837..75011583-chr5:75016834..75018987,2	K562	blood:
4	chr5:75012127..75015075-chr5:75015855..75021206,8	K562	blood:

Variant related genes	Relation type
POC5	TF binding region
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10038319	0.88[EUR][1000 genomes]
rs10066858	0.88[EUR][1000 genomes]
rs1018119	0.83[TSI][hapmap]
rs10474445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12234025	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16872760	0.82[GIH][hapmap];0.87[EUR][1000 genomes]
rs17672542	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862219	0.82[GIH][hapmap];0.88[EUR][1000 genomes]
rs1862220	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1988728	0.83[TSI][hapmap]
rs2193991	0.86[EUR][1000 genomes]
rs2216572	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs2303647	0.85[GIH][hapmap];0.88[EUR][1000 genomes]
rs3815894	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56676015	0.88[EUR][1000 genomes]
rs5744566	0.83[TSI][hapmap]
rs5744567	0.83[TSI][hapmap]
rs5744612	0.83[TSI][hapmap]
rs5744661	0.83[TSI][hapmap]
rs6453140	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7730317	1.00[ASW][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs976013	FLJ35779	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75013400-75024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:75013800-75018800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:75015600-75017200	Weak transcription	K562	blood
4	chr5:75015600-75017600	Enhancers	HepG2	liver
5	chr5:75016400-75017400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:75016400-75017600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:75016600-75017200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr5:75016600-75017200	Enhancers	Liver	Liver

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