Variant report

Variant	esv3445432
Chromosome Location	chr5:74533996-74535994
allele	n/a
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	CBX3	chr5:74535454-74536020	HCT-116	colon:	n/a	n/a
2	CEBPB	chr5:74535558-74535876	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr5:74535487-74535900	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:74535627-74535883	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr5:74535640-74535790	HMEC	breast:	n/a	n/a
6	CTCF	chr5:74535680-74535830	Caco-2	colon:	n/a	n/a
7	CTCF	chr5:74535660-74535810	NHEK	skin:	n/a	n/a
8	CTCF	chr5:74535600-74535750	HMEC	breast:	n/a	n/a
9	CTCF	chr5:74535700-74535850	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr5:74534384-74534460	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr5:74535640-74535790	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:74535680-74535830	SAEC	small airway:	n/a	n/a
13	CTCF	chr5:74534462-74534464	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr5:74535660-74535810	SAEC	small airway:	n/a	n/a
15	CTCF	chr5:74535694-74535821	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr5:74535640-74535790	RPTEC	kidney:	n/a	n/a
17	CTCF	chr5:74535560-74535710	HCT-116	colon:	n/a	n/a
18	E2F4	chr5:74535671-74535901	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F6	chr5:74535113-74535921	H1-hESC	embryonic stem cell:	n/a	chr5:74535463-74535475 chr5:74535467-74535474 chr5:74535463-74535471 chr5:74535463-74535470 chr5:74535467-74535474 chr5:74535464-74535478 chr5:74535467-74535474 chr5:74535462-74535473 chr5:74535463-74535471 chr5:74535462-74535472 chr5:74535464-74535479 chr5:74535463-74535474 chr5:74535460-74535477 chr5:74535466-74535475
20	EP300	chr5:74535507-74535840	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr5:74535424-74536109	ECC-1	luminal epithelium:	n/a	n/a
22	FOS	chr5:74535605-74535898	MCF10A-Er-Src	breast:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
23	FOS	chr5:74535576-74535908	MCF10A-Er-Src	breast:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
24	FOS	chr5:74535600-74535796	MCF10A-Er-Src	breast:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
25	FOS	chr5:74535619-74535835	MCF10A-Er-Src	breast:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
26	FOSL1	chr5:74535313-74535940	HCT-116	colon:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
27	FOSL2	chr5:74535561-74535940	MCF-7	breast:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
28	FOXM1	chr5:74535459-74536051	ECC-1	luminal epithelium:	n/a	n/a
29	FOXM1	chr5:74535331-74536119	ECC-1	luminal epithelium:	n/a	n/a
30	GATA3	chr5:74535583-74535851	T-47D	breast:	n/a	n/a
31	JUN	chr5:74535540-74535897	H1-hESC	embryonic stem cell:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
32	JUND	chr5:74535542-74535919	H1-hESC	embryonic stem cell:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
33	JUND	chr5:74535491-74535970	HCT-116	colon:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
34	JUND	chr5:74535564-74535887	H1-hESC	embryonic stem cell:	n/a	chr5:74535721-74535728 chr5:74535720-74535728
35	MAFK	chr5:74535134-74535306	IMR90	lung:	n/a	chr5:74535274-74535289
36	MAFK	chr5:74535209-74535409	K562	blood:	n/a	chr5:74535274-74535289
37	MAFK	chr5:74535115-74535410	HepG2	liver:	n/a	chr5:74535274-74535289
38	MAFK	chr5:74535133-74535855	H1-hESC	embryonic stem cell:	n/a	chr5:74535274-74535289 chr5:74535447-74535461 chr5:74535718-74535728
39	MAFK	chr5:74535131-74535392	HepG2	liver:	n/a	chr5:74535274-74535289
40	MAX	chr5:74535020-74535920	ECC-1	luminal epithelium:	n/a	chr5:74535488-74535497
41	MYC	chr5:74535671-74535806	MCF10A-Er-Src	breast:	n/a	n/a
42	NANOG	chr5:74535616-74535878	H1-hESC	embryonic stem cell:	n/a	n/a
43	NFIC	chr5:74535517-74535915	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr5:74534457-74534531	Gliobla	brain:	n/a	n/a
45	POLR2A	chr5:74535736-74535852	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr5:74535242-74535318	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:74535163-74535198	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:74535604-74535826	HCT-116	colon:	n/a	n/a
49	SP1	chr5:74535542-74535945	H1-hESC	embryonic stem cell:	n/a	n/a
50	SP1	chr5:74535466-74536085	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74532153..74534047-chr5:74632305..74633924,2	MCF-7	breast:
2	chr5:74535747..74537406-chr5:74677465..74679427,2	K562	blood:

Variant related genes	Relation type
ANKRD31	TF binding region
ENSG00000247372	chromatin interactions
ENSG00000113161	chromatin interactions
ENSG00000113163	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568215236	chr5:74534105-74534106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79435660	chr5:74534122-74534123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80223115	chr5:74534123-74534124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571649442	chr5:74534186-74534187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571057361	chr5:74534221-74534222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539622274	chr5:74534230-74534231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556836284	chr5:74534284-74534285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67065524	chr5:74534309-74534310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557181907	chr5:74534363-74534364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6866661	chr5:74534372-74534373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs564364055	chr5:74534479-74534480	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554653422	chr5:74534484-74534485	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574476671	chr5:74534560-74534561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540365521	chr5:74534573-74534574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6867014	chr5:74534616-74534617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370899847	chr5:74534619-74534620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536466558	chr5:74534682-74534683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75032363	chr5:74534699-74534700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75446648	chr5:74534710-74534711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144502309	chr5:74534751-74534752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567851145	chr5:74534756-74534757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562813775	chr5:74534764-74534765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531462274	chr5:74534778-74534779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553260632	chr5:74534793-74534794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541716104	chr5:74534811-74534812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561784197	chr5:74534863-74534864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527662434	chr5:74534880-74534881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137892055	chr5:74534883-74534884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576251463	chr5:74534890-74534891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368864199	chr5:74534936-74534937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200870239	chr5:74534940-74534941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373685362	chr5:74534941-74534942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370923941	chr5:74534943-74534944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374256157	chr5:74534950-74534951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373752604	chr5:74534954-74534955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370666771	chr5:74534977-74534978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60680328	chr5:74534978-74534979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377591254	chr5:74534981-74534982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374167903	chr5:74534986-74534987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75725428	chr5:74535034-74535035	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs564395425	chr5:74535059-74535060	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573234966	chr5:74535079-74535080	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs182951160	chr5:74535092-74535093	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs550066745	chr5:74535100-74535101	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs570331173	chr5:74535169-74535170	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536195425	chr5:74535186-74535187	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186938694	chr5:74535246-74535247	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs191740613	chr5:74535292-74535293	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369854262	chr5:74535341-74535342	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs78382692	chr5:74535354-74535355	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	22355333	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74533200-74534200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:74533200-74534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74533200-74534400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:74533200-74534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:74533200-74535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:74533200-74535000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:74533200-74535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:74533200-74535200	Weak transcription	Pancreas	Pancrea
9	chr5:74533400-74534000	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr5:74533400-74534200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:74533400-74534400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:74533400-74534400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:74533400-74534400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:74533400-74534400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:74533400-74534400	Weak transcription	HMEC	breast
16	chr5:74533400-74535000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:74533400-74535000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:74533400-74535000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:74533400-74535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:74533400-74535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:74533400-74535000	Weak transcription	Placenta	Placenta
22	chr5:74533400-74535000	Weak transcription	NHEK	skin
23	chr5:74533400-74535200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:74533400-74535200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:74533400-74535200	Weak transcription	NH-A	brain
26	chr5:74533400-74535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:74533400-74535400	Weak transcription	A549	lung
28	chr5:74533400-74537400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:74533800-74534000	Enhancers	Esophagus	oesophagus
30	chr5:74533800-74537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:74534000-74536000	Weak transcription	Esophagus	oesophagus
32	chr5:74534200-74535600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:74534200-74536200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:74534400-74534600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:74534400-74534600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:74534400-74534600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:74534400-74535400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:74534400-74535400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:74534400-74535400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:74534400-74535800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:74534400-74536400	Enhancers	HMEC	breast
42	chr5:74534600-74535000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:74534600-74535000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:74534600-74535000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:74535000-74535200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:74535000-74535400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr5:74535000-74535400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:74535000-74535600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:74535000-74535600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:74535000-74536000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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