Variant report

Variant	rs59745185
Chromosome Location	chr5:28809640-28809641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr5:28809264-28810843	K562	blood:	n/a	n/a
2	CCNT2	chr5:28809192-28810112	K562	blood:	n/a	n/a
3	POLR2A	chr5:28808933-28811136	K562	blood:	n/a	n/a
4	POLR2A	chr5:28809022-28810868	K562	blood:	n/a	n/a
5	TAF1	chr5:28809120-28810256	K562	blood:	n/a	n/a
6	YY1	chr5:28808936-28809731	K562	blood:	n/a	chr5:28809679-28809690
7	MAX	chr5:28808901-28809985	K562	blood:	n/a	n/a
8	POLR2A	chr5:28809049-28809940	K562	blood:	n/a	n/a
9	YY1	chr5:28808674-28809841	K562	blood:	n/a	chr5:28808679-28808698 chr5:28809679-28809690
10	E2F6	chr5:28809006-28809679	K562	blood:	n/a	chr5:28809400-28809409 chr5:28809402-28809412
11	POLR2A	chr5:28809154-28809792	K562	blood:	n/a	n/a
12	UBTF	chr5:28808907-28811220	K562	blood:	n/a	n/a
13	RCOR1	chr5:28809155-28810032	K562	blood:	n/a	n/a
14	POLR2A	chr5:28808801-28810933	K562	blood:	n/a	n/a
15	POLR2A	chr5:28808410-28811261	K562	blood:	n/a	n/a
16	POLR2A	chr5:28808900-28811418	K562	blood:	n/a	n/a
17	HCFC1	chr5:28808790-28809973	K562	blood:	n/a	n/a
18	E2F6	chr5:28808705-28809915	K562	blood:	n/a	chr5:28809400-28809409 chr5:28809402-28809412
19	BHLHE40	chr5:28808920-28809724	K562	blood:	n/a	n/a
20	HEY1	chr5:28809103-28809707	K562	blood:	n/a	chr5:28809397-28809412
21	MAZ	chr5:28809082-28811169	K562	blood:	n/a	n/a
22	RCOR1	chr5:28808790-28809668	K562	blood:	n/a	n/a
23	ELF1	chr5:28808940-28809905	K562	blood:	n/a	chr5:28809739-28809748 chr5:28809380-28809391 chr5:28809378-28809391 chr5:28809738-28809747 chr5:28809737-28809748
24	POLR2A	chr5:28809041-28810973	K562	blood:	n/a	n/a
25	POLR2A	chr5:28808828-28810907	K562	blood:	n/a	n/a
26	ZBTB7A	chr5:28809608-28809846	K562	blood:	n/a	n/a
27	GABPA	chr5:28809230-28809673	K562	blood:	n/a	chr5:28809399-28809410 chr5:28809399-28809408 chr5:28809396-28809410 chr5:28809393-28809407 chr5:28809399-28809413
28	MAX	chr5:28808971-28809726	K562	blood:	n/a	n/a
29	HMGN3	chr5:28809138-28810802	K562	blood:	n/a	n/a
30	IRF1	chr5:28809178-28809651	K562	blood:	n/a	n/a
31	HEY1	chr5:28808986-28809774	K562	blood:	n/a	chr5:28809397-28809412
32	JUND	chr5:28808646-28809991	K562	blood:	n/a	n/a
33	TBP	chr5:28809078-28811164	K562	blood:	n/a	n/a
34	TEAD4	chr5:28809086-28809670	K562	blood:	n/a	n/a
35	MYC	chr5:28808782-28810035	K562	blood:	n/a	n/a
36	PML	chr5:28809050-28809763	K562	blood:	n/a	n/a
37	IRF1	chr5:28809224-28809687	K562	blood:	n/a	n/a
38	ELF1	chr5:28808942-28809891	K562	blood:	n/a	chr5:28809739-28809748 chr5:28809380-28809391 chr5:28809378-28809391 chr5:28809738-28809747 chr5:28809737-28809748
39	GTF2F1	chr5:28809185-28809723	K562	blood:	n/a	n/a
40	MYC	chr5:28808962-28811105	K562	blood:	n/a	n/a
41	ELK1	chr5:28809580-28809689	K562	blood:	n/a	n/a
42	POLR2A	chr5:28809086-28810981	K562	blood:	n/a	n/a
43	TAF1	chr5:28808960-28809876	K562	blood:	n/a	n/a
44	TBL1XR1	chr5:28808794-28809897	K562	blood:	n/a	n/a
45	ZMIZ1	chr5:28809182-28809701	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:28809622-28809672	HRPEpiC	eye:	n/a
2	chr5:28809622-28809672	BE2_C	brain:	n/a
3	chr5:28809622-28809672	PFSK-1	brain:	n/a
4	chr5:28809622-28809672	HPAEpiC	pulmonary alveolar:	n/a
5	chr5:28809622-28809672	NB4	blood:	n/a
6	chr5:28809622-28809672	HAEpiC	amniotic membrane:	n/a
7	chr5:28809622-28809672	GM12878	blood:	n/a
8	chr5:28809622-28809672	AG04450	lung:	fetal
9	chr5:28809622-28809672	GM06990	blood:	n/a
10	chr5:28809622-28809672	AoSMC	blood vessel:	n/a
11	chr5:28809622-28809672	HepG2	liver:	n/a
12	chr5:28809622-28809672	ECC-1	luminal epithelium:	n/a
13	chr5:28809622-28809672	PANC-1	pancreas:	n/a
14	chr5:28809622-28809672	LNCaP	prostate:	n/a
15	chr5:28809622-28809672	H1-hESC	embryonic stem cell:	embryo
16	chr5:28809622-28809672	PrEC	prostate:	n/a
17	chr5:28809622-28809672	HL-60	blood:	n/a
18	chr5:28809622-28809672	HCPEpiC	choroid plexus:	n/a
19	chr5:28809622-28809672	SK-N-MC	brain:	n/a
20	chr5:28809622-28809672	Caco-2	colon:	n/a
21	chr5:28809622-28809672	BJ	skin:	n/a
22	chr5:28809622-28809672	MCF-7	breast:	n/a
23	chr5:28809622-28809672	AG04449	skin:	fetal
24	chr5:28809622-28809672	GM12892	blood:	n/a
25	chr5:28809622-28809672	RPTEC	kidney:	n/a
26	chr5:28809622-28809672	U87	brain:	n/a
27	chr5:28809622-28809672	Jurkat	blood:	n/a
28	chr5:28809622-28809672	HCM	heart:	n/a
29	chr5:28809622-28809672	SK-N-SH_RA	brain:	n/a
30	chr5:28809622-28809672	HIPEpiC	eye:	n/a
31	chr5:28809622-28809672	AG10803	skin:	n/a
32	chr5:28809622-28809672	ovcar-3	ovarian:	n/a
33	chr5:28809622-28809672	SK-N-SH	brain:	n/a
34	chr5:28809622-28809672	Hela-S3	cervix:	n/a
35	chr5:28809622-28809672	HCT-116	colon:	n/a
36	chr5:28809622-28809672	AG09319	gingival:	n/a
37	chr5:28809622-28809672	HNPCEpiC	eye:	n/a
38	chr5:28809622-28809672	NH-A	brain:	n/a
39	chr5:28809622-28809672	HUVEC	blood vessel:	n/a
40	chr5:28809622-28809672	NHDF-neo	bronchial:	n/a
41	chr5:28809622-28809672	Hepatocyte	liver:	n/a
42	chr5:28809622-28809672	MCF10A-Er-Src	breast:	n/a
43	chr5:28809622-28809672	K562	blood:	n/a
44	chr5:28809622-28809672	A549	lung:	n/a
45	chr5:28809622-28809672	AG09309	skin:	n/a
46	chr5:28809622-28809672	CMK	blood:	n/a
47	chr5:28809622-28809672	IMR90	lung:	fetal
48	chr5:28809622-28809672	HCF	heart:	n/a
49	chr5:28809622-28809672	HMEC	breast:	n/a
50	chr5:28809622-28809672	HEK293	kidney:	embryo

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:28809387..28811298-chr5:29193650..29195834,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250453	TF binding region
ENSG00000250453	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16898219	1.00[AMR][1000 genomes]
rs16898221	1.00[AMR][1000 genomes]
rs16898222	1.00[AMR][1000 genomes]
rs1811689	0.85[AMR][1000 genomes]
rs1847067	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875540	0.85[AMR][1000 genomes]
rs55692804	1.00[AMR][1000 genomes]
rs57354170	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57596507	1.00[AMR][1000 genomes]
rs57990619	1.00[AMR][1000 genomes]
rs59175357	1.00[AMR][1000 genomes]
rs73749817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749826	1.00[AMR][1000 genomes]
rs73749834	1.00[AMR][1000 genomes]
rs7726657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs924621	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026700	chr5:28067287-28978638	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv537707	chr5:28067287-28978638	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1029219	chr5:28370908-29086506	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv537710	chr5:28370908-29086506	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv880822	chr5:28498983-28959648	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv432730	chr5:28551143-28829943	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv880917	chr5:28625380-28902826	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv880802	chr5:28682246-28853116	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv462027	chr5:28707892-28986950	Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv597712	chr5:28707892-28986950	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv881229	chr5:28739011-28921260	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv881313	chr5:28763652-28862551	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv462029	chr5:28763652-28870503	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv462030	chr5:28763652-28870503	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv597713	chr5:28763652-28870503	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
16	nsv597714	chr5:28763652-28874113	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv818336	chr5:28779357-28815962	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv597715	chr5:28779357-28868463	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv880313	chr5:28779357-28915911	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1033770	chr5:28782845-28897933	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv597716	chr5:28786844-28855283	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv880903	chr5:28786844-28862551	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv597717	chr5:28786844-28869165	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv881414	chr5:28786844-28874113	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv880743	chr5:28786844-28902826	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
26	nsv880470	chr5:28786844-28921260	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv880374	chr5:28786844-28955799	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv881575	chr5:28786844-28979728	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv881649	chr5:28786844-29007308	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
30	nsv881344	chr5:28786844-29017460	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv880855	chr5:28786844-29129027	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
32	nsv881081	chr5:28787380-28862551	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
33	nsv462031	chr5:28792713-28841945	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
34	nsv597718	chr5:28792713-28841945	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
35	nsv462032	chr5:28792713-28853116	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
36	nsv597719	chr5:28792713-28853116	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
37	esv1805786	chr5:28792713-28874113	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	nsv462033	chr5:28792713-28874113	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
39	nsv597720	chr5:28792713-28874113	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
40	esv1812910	chr5:28792713-28877116	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
41	nsv462034	chr5:28792713-28877116	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
42	nsv597721	chr5:28792713-28877116	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
43	nsv515023	chr5:28795803-28871795	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
44	nsv597722	chr5:28806256-28841945	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
45	nsv597723	chr5:28806256-28855283	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
46	nsv462035	chr5:28806256-28865813	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
47	nsv597724	chr5:28806256-28865813	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
48	nsv462036	chr5:28806256-28869165	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
49	nsv462037	chr5:28806256-28869165	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
50	nsv597725	chr5:28806256-28869165	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28806200-28813200	Active TSS	K562	blood
2	chr5:28808600-28810800	ZNF genes & repeats	Placenta	Placenta
3	chr5:28809000-28810600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:28809400-28809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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