Variant report

Variant	rs319911
Chromosome Location	chr5:104246671-104246672
allele	C/T
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	SMC3	chr5:104246616-104247005	Hela-S3	cervix:	n/a	n/a
2	MAX	chr5:104246577-104246989	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr5:104246487-104247089	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr5:104246283-104247220	MCF-7	breast:	n/a	n/a
5	HDAC2	chr5:104246496-104247162	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:104246553-104246753	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA2	chr5:104246546-104246969	A549	lung:	n/a	n/a
8	TEAD4	chr5:104246473-104247013	MCF-7	breast:	n/a	n/a
9	FOS	chr5:104246641-104246949	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr5:104246614-104246888	T-47D	breast:	n/a	n/a
11	TEAD4	chr5:104246556-104246942	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr5:104246554-104246948	MCF-7	breast:	n/a	n/a
13	STAT3	chr5:104246639-104246963	Hela-S3	cervix:	n/a	chr5:104246804-104246815
14	CHD2	chr5:104246611-104246974	Hela-S3	cervix:	n/a	n/a
15	NR2F2	chr5:104246507-104247130	MCF-7	breast:	n/a	n/a
16	FOXA2	chr5:104246524-104247092	A549	lung:	n/a	n/a
17	RAD21	chr5:104246618-104246995	Hela-S3	cervix:	n/a	n/a
18	TFAP2A	chr5:104246502-104247090	Hela-S3	cervix:	n/a	chr5:104246834-104246849
19	MAX	chr5:104246580-104247008	MCF-7	breast:	n/a	n/a
20	STAT3	chr5:104246560-104246967	MCF10A-Er-Src	breast:	n/a	chr5:104246804-104246815
21	EP300	chr5:104246543-104247084	MCF-7	breast:	n/a	n/a
22	STAT3	chr5:104246516-104246937	MCF10A-Er-Src	breast:	n/a	chr5:104246804-104246815
23	CEBPB	chr5:104246629-104247018	Hela-S3	cervix:	n/a	n/a
24	FOXP2	chr5:104246597-104247029	SK-N-MC	brain:	n/a	n/a
25	RCOR1	chr5:104246625-104246955	Hela-S3	cervix:	n/a	n/a
26	MYC	chr5:104246670-104246965	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr5:104246519-104247127	MCF-7	breast:	n/a	n/a
28	ZNF217	chr5:104246646-104246978	MCF-7	breast:	n/a	n/a
29	TFAP2C	chr5:104246482-104247093	Hela-S3	cervix:	n/a	chr5:104246834-104246849
30	STAT3	chr5:104246634-104247003	MCF10A-Er-Src	breast:	n/a	chr5:104246804-104246815
31	POLR2A	chr5:104246596-104247048	SK-N-MC	brain:	n/a	n/a
32	FOSL2	chr5:104246547-104246999	MCF-7	breast:	n/a	n/a
33	MYC	chr5:104246668-104246906	MCF-7	breast:	n/a	n/a
34	USF2	chr5:104246605-104246851	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr5:104246540-104246999	MCF-7	breast:	n/a	n/a
36	RAD21	chr5:104246472-104247109	MCF-7	breast:	n/a	n/a
37	FOS	chr5:104246661-104246934	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:104246671-104246954	MCF-7	breast:	n/a	n/a
39	BRCA1	chr5:104246667-104246983	Hela-S3	cervix:	n/a	n/a
40	SP1	chr5:104246540-104247077	A549	lung:	n/a	n/a
41	FOS	chr5:104246554-104246964	MCF10A-Er-Src	breast:	n/a	n/a
42	HDAC2	chr5:104246543-104247056	MCF-7	breast:	n/a	n/a
43	FOS	chr5:104246550-104246973	MCF10A-Er-Src	breast:	n/a	n/a
44	SIN3AK20	chr5:104246389-104247177	MCF-7	breast:	n/a	n/a
45	NR2F2	chr5:104246589-104247078	MCF-7	breast:	n/a	n/a
46	TCF12	chr5:104246440-104247055	A549	lung:	n/a	n/a
47	GATA3	chr5:104246471-104247244	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000251574	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13164186	0.81[ASN][1000 genomes]
rs1821902	0.81[ASN][1000 genomes]
rs1837250	0.85[CHB][hapmap];0.80[YRI][hapmap]
rs319910	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs410181	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs423646	0.82[ASN][1000 genomes]
rs433980	0.84[ASN][1000 genomes]
rs515647	0.82[ASN][1000 genomes]
rs7706440	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531969	chr5:103482070-104249804	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1022638	chr5:103789145-104682389	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2752054	chr5:103921670-104289566	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020679	chr5:103989150-104410014	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1019899	chr5:104024562-104551032	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv537839	chr5:104024562-104551032	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv817285	chr5:104027759-104551555	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv462338	chr5:104028909-104526114	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv599216	chr5:104028909-104526114	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1018475	chr5:104063755-104360252	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv882540	chr5:104064942-104283002	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1020336	chr5:104084429-104255608	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1031808	chr5:104087439-104249987	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv523593	chr5:104090636-104254580	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1017389	chr5:104093971-104531845	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv537840	chr5:104093971-104531845	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1026168	chr5:104093971-104644095	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv537841	chr5:104093971-104644095	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1030286	chr5:104094082-104255608	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1034157	chr5:104094082-104268400	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv882544	chr5:104110119-104250159	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1020924	chr5:104130854-104249987	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv537842	chr5:104130854-104249987	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1031474	chr5:104134943-104327639	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv599218	chr5:104139803-104272839	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv882545	chr5:104139803-104841922	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv882547	chr5:104147248-104264230	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv1017284	chr5:104152874-104254188	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv882549	chr5:104153592-104264230	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv1022238	chr5:104157438-104315402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
31	nsv969940	chr5:104173727-104398583	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
32	nsv882552	chr5:104178598-104250159	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
33	nsv428122	chr5:104180869-104550421	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv980991	chr5:104196818-104246919	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
35	esv2757128	chr5:104198259-104294590	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
36	esv2759364	chr5:104198259-104294590	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv882554	chr5:104199060-104250159	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
38	nsv882555	chr5:104199060-104264230	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
39	nsv1023199	chr5:104202630-104336198	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
40	nsv1019348	chr5:104202630-104344184	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
41	esv2760974	chr5:104202642-104385353	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
42	nsv1026500	chr5:104202712-104336198	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
43	nsv1030306	chr5:104205018-104252696	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
44	nsv882556	chr5:104205992-104264230	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
45	nsv599221	chr5:104212940-104296661	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
46	esv11908	chr5:104217558-104255023	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
47	nsv818369	chr5:104220584-104254580	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
48	nsv1018098	chr5:104220834-104252504	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
49	nsv1030939	chr5:104220834-104255608	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
50	nsv1022543	chr5:104220834-104436713	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104245400-104246800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:104245400-104247200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:104245600-104247800	Active TSS	A549	lung
4	chr5:104245800-104247600	Enhancers	HMEC	breast
5	chr5:104246000-104247000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:104246200-104247000	Flanking Active TSS	NHEK	skin
7	chr5:104246400-104247600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:104246600-104246800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:104246600-104246800	Flanking Active TSS	Hela-S3	cervix
10	chr5:104246600-104247000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:104246600-104247000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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