Variant report

Variant	rs1500511
Chromosome Location	chr5:17378768-17378769
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	CEBPB	chr5:17378354-17378887	A549	lung:	n/a	n/a
2	RCOR1	chr5:17378160-17379028	Hela-S3	cervix:	n/a	n/a
3	REST	chr5:17378319-17379039	A549	lung:	n/a	n/a
4	BCL3	chr5:17378259-17378998	A549	lung:	n/a	chr5:17378346-17378355
5	MYC	chr5:17378164-17379044	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:17378121-17379001	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr5:17378090-17379200	A549	lung:	n/a	n/a
8	FOSL2	chr5:17378293-17378976	A549	lung:	n/a	chr5:17378834-17378842 chr5:17378835-17378846 chr5:17378832-17378844
9	SMARCC1	chr5:17378096-17379547	Hela-S3	cervix:	n/a	chr5:17378834-17378843 chr5:17378654-17378663
10	FOXA2	chr5:17378203-17378823	A549	lung:	n/a	n/a
11	GATA3	chr5:17378334-17378950	A549	lung:	n/a	n/a
12	EP300	chr5:17378165-17379045	Hela-S3	cervix:	n/a	chr5:17378559-17378569
13	MAX	chr5:17378093-17378874	A549	lung:	n/a	n/a
14	CEBPB	chr5:17378424-17378793	A549	lung:	n/a	n/a
15	RAD21	chr5:17378130-17379019	Hela-S3	cervix:	n/a	n/a
16	PRDM1	chr5:17378193-17380076	Hela-S3	cervix:	n/a	chr5:17379739-17379754
17	NR3C1	chr5:17378329-17378839	A549	lung:	n/a	chr5:17378508-17378515 chr5:17378495-17378521 chr5:17378807-17378814 chr5:17378804-17378813
18	CHD2	chr5:17378179-17379000	Hela-S3	cervix:	n/a	n/a
19	STAT1	chr5:17377840-17380245	Hela-S3	cervix:	n/a	chr5:17378567-17378581
20	TEAD4	chr5:17378364-17379017	A549	lung:	n/a	n/a
21	CEBPB	chr5:17378426-17378822	MCF-7	breast:	n/a	n/a
22	NR3C1	chr5:17378415-17378944	A549	lung:	n/a	chr5:17378508-17378515 chr5:17378495-17378521 chr5:17378807-17378814 chr5:17378804-17378813 chr5:17378834-17378843
23	RFX5	chr5:17378105-17379051	Hela-S3	cervix:	n/a	n/a
24	FOSL2	chr5:17378228-17379234	A549	lung:	n/a	chr5:17378834-17378842 chr5:17378835-17378846 chr5:17378832-17378844
25	JUN	chr5:17378035-17379993	Hela-S3	cervix:	n/a	chr5:17378834-17378842 chr5:17378835-17378846 chr5:17378832-17378844
26	EP300	chr5:17378020-17379156	A549	lung:	n/a	chr5:17378559-17378569
27	STAT3	chr5:17378137-17379618	Hela-S3	cervix:	n/a	chr5:17378567-17378581
28	SP1	chr5:17378104-17379279	A549	lung:	n/a	n/a
29	RCOR1	chr5:17378003-17379314	IMR90	lung:	n/a	n/a
30	TCF7L2	chr5:17378192-17379859	Hela-S3	cervix:	n/a	n/a
31	FOS	chr5:17378481-17379024	Hela-S3	cervix:	n/a	chr5:17378834-17378842 chr5:17378835-17378846 chr5:17378832-17378844
32	EP300	chr5:17378132-17379146	A549	lung:	n/a	chr5:17378559-17378569
33	TEAD4	chr5:17378413-17378931	A549	lung:	n/a	n/a
34	MAX	chr5:17378238-17379006	Hela-S3	cervix:	n/a	n/a
35	SP1	chr5:17378106-17379115	A549	lung:	n/a	n/a
36	SMC3	chr5:17378241-17379580	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr5:17377970-17379954	Hela-S3	cervix:	n/a	n/a
38	KAP1	chr5:17378179-17380106	HEK293	kidney:	n/a	n/a
39	CEBPB	chr5:17378222-17379097	A549	lung:	n/a	n/a
40	TCF12	chr5:17377861-17379564	A549	lung:	n/a	n/a
41	CEBPB	chr5:17378412-17378941	IMR90	lung:	n/a	n/a
42	MAX	chr5:17378057-17379134	A549	lung:	n/a	n/a
43	MAX	chr5:17378151-17378948	Hela-S3	cervix:	n/a	n/a
44	KAP1	chr5:17378042-17380078	U2OS	brain:	n/a	n/a
45	JUND	chr5:17378036-17379672	Hela-S3	cervix:	n/a	chr5:17378834-17378842 chr5:17378835-17378846 chr5:17378832-17378844
46	STAT3	chr5:17378496-17378860	MCF10A-Er-Src	breast:	n/a	chr5:17378567-17378581
47	MXI1	chr5:17378120-17379541	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17374822..17377145-chr5:17377368..17380212,2	K562	blood:
2	chr5:17374463..17376322-chr5:17377368..17380030,2	K562	blood:

Variant related genes	Relation type
ENSG00000249199	TF binding region
ENSG00000249199	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11133897	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133898	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737945	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11740672	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743437	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744098	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11748337	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13178501	0.83[EUR][1000 genomes]
rs1500509	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1500510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16869733	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17709618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2036848	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2036849	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2036850	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2036851	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56410898	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57275523	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62350498	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62350500	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6554999	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6555000	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6868074	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6871581	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6882600	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891254	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6892116	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6893082	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72740521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7713992	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7716697	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7728024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7731294	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7735292	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7735758	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv1793466	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv1801170	chr5:17364700-17721569	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	esv1820519	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	esv1824831	chr5:17364700-17721569	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	esv1827359	chr5:17364700-17721569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	esv1828062	chr5:17364700-17721569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv427713	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv428464	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv2757986	chr5:17364700-17936404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	esv2759328	chr5:17364700-17936404	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv1017469	chr5:17373383-17416643	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17375600-17380800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:17375800-17379200	Weak transcription	HMEC	breast
3	chr5:17375800-17379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:17375800-17380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:17375800-17380400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:17375800-17380400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:17375800-17380400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:17375800-17380800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:17375800-17387000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:17377800-17380000	Enhancers	NHLF	lung
11	chr5:17377800-17382200	Enhancers	Placenta	Placenta
12	chr5:17378000-17379600	Flanking Active TSS	Hela-S3	cervix
13	chr5:17378000-17380000	Enhancers	Fetal Lung	lung
14	chr5:17378000-17381200	Enhancers	Osteobl	bone
15	chr5:17378200-17378800	Active TSS	Ovary	ovary
16	chr5:17378200-17379200	Flanking Active TSS	A549	lung
17	chr5:17378200-17380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:17378200-17380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:17378200-17381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:17378200-17382400	Enhancers	NH-A	brain
21	chr5:17378400-17378800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:17378400-17379200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:17378400-17379400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:17378400-17379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:17378600-17379600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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