Variant report

Variant	esv2757064
Chromosome Location	chr4:69863174-69901607
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	ARID3A	chr4:69890715-69891247	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69885444-69885630	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69898611-69898899	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69888831-69889086	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:69885882-69886539	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:69884842-69885191	HepG2	liver:	n/a	n/a
7	ATF3	chr4:69900085-69900485	A549	lung:	n/a	n/a
8	BCL3	chr4:69899981-69900657	A549	lung:	n/a	n/a
9	BCL3	chr4:69898499-69898958	A549	lung:	n/a	n/a
10	BCL3	chr4:69900041-69900545	A549	lung:	n/a	n/a
11	BCL3	chr4:69885805-69886533	A549	lung:	n/a	n/a
12	CEBPB	chr4:69900095-69900462	A549	lung:	n/a	n/a
13	CEBPB	chr4:69888701-69889087	HepG2	liver:	n/a	chr4:69888891-69888904 chr4:69888893-69888904 chr4:69888891-69888902
14	CEBPB	chr4:69896090-69896374	A549	lung:	n/a	chr4:69896249-69896260 chr4:69896248-69896259
15	CEBPB	chr4:69898527-69898916	A549	lung:	n/a	n/a
16	CEBPB	chr4:69888809-69888934	HepG2	liver:	n/a	chr4:69888891-69888904 chr4:69888893-69888904 chr4:69888891-69888902
17	CEBPB	chr4:69901059-69901309	A549	lung:	n/a	n/a
18	CEBPB	chr4:69898629-69898929	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:69882088-69882303	IMR90	lung:	n/a	chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882237 chr4:69882228-69882239
20	CEBPB	chr4:69886177-69886484	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:69886176-69886490	A549	lung:	n/a	n/a
22	CEBPB	chr4:69898624-69898950	MCF-7	breast:	n/a	n/a
23	CEBPB	chr4:69894252-69894628	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr4:69886059-69886427	A549	lung:	n/a	n/a
25	CEBPB	chr4:69895793-69896419	HepG2	liver:	n/a	chr4:69896249-69896260 chr4:69896406-69896417 chr4:69896248-69896259 chr4:69896406-69896417
26	CEBPB	chr4:69882137-69882260	K562	blood:	n/a	chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882237 chr4:69882228-69882239
27	CEBPB	chr4:69882055-69882382	HepG2	liver:	n/a	chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882239 chr4:69882226-69882237 chr4:69882228-69882239
28	CEBPB	chr4:69898630-69898927	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr4:69886187-69886480	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:69883592-69883726	H1-hESC	embryonic stem cell:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
31	CEBPB	chr4:69898612-69899241	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:69883563-69883844	IMR90	lung:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
33	CEBPB	chr4:69885959-69886509	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:69898659-69898976	A549	lung:	n/a	n/a
35	CEBPB	chr4:69883642-69883886	A549	lung:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
36	CEBPB	chr4:69899904-69900396	A549	lung:	n/a	n/a
37	CEBPB	chr4:69898630-69899244	A549	lung:	n/a	n/a
38	CEBPB	chr4:69883582-69883882	HepG2	liver:	n/a	chr4:69883701-69883712 chr4:69883703-69883714 chr4:69883701-69883714 chr4:69883701-69883714
39	CEBPB	chr4:69898670-69898946	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:69890780-69890930	GM12866	blood:	n/a	n/a
41	CTCF	chr4:69891120-69891270	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr4:69891039-69891270	GM19239	blood:	n/a	n/a
43	CTCF	chr4:69890960-69891110	GM12801	blood:	n/a	n/a
44	CTCF	chr4:69891100-69891250	BE2_C	brain:	n/a	n/a
45	CTCF	chr4:69891020-69891170	HL-60	blood:	n/a	n/a
46	CTCF	chr4:69891180-69891330	AG04450	lung:	n/a	n/a
47	CTCF	chr4:69891080-69891230	AG04449	skin:	n/a	n/a
48	CTCF	chr4:69880751-69880757	ProgFib	skin:	n/a	n/a
49	CTCF	chr4:69891069-69891261	A549	lung:	n/a	n/a
50	CTCF	chr4:69891100-69891250	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69894916..69897017-chr4:69914362..69916605,2	MCF-7	breast:
2	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2A3-9	chr4:69887374-69888058	NONHSAT096750
2	lnc-UGT2A3-7	chr4:69862653-69863427	NONHSAT096749

Variant related genes	Relation type
ENSG00000249890	TF binding region
ENSG00000251685	TF binding region
ENSG00000250919	TF binding region
ENSG00000250277	TF binding region

Extended variants
information (count: 1918 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1918 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2017990	chr4:69863174-69863175	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547416898	chr4:69863203-69863204	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs182109674	chr4:69863233-69863234	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs535980211	chr4:69863267-69863268	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556208023	chr4:69863274-69863275	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569378092	chr4:69863281-69863282	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78248422	chr4:69863303-69863304	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs59049522	chr4:69863307-69863308	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs62299984	chr4:69863308-69863309	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538429402	chr4:69863349-69863350	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377757419	chr4:69863370-69863371	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs186700664	chr4:69863430-69863431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4419538	chr4:69863439-69863440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191011548	chr4:69863472-69863473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145152488	chr4:69863494-69863495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78806655	chr4:69863502-69863503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377659395	chr4:69863503-69863504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147959247	chr4:69863524-69863525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74286012	chr4:69863528-69863529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4643882	chr4:69863571-69863572	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531445834	chr4:69863583-69863584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141805582	chr4:69863586-69863587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565023018	chr4:69863629-69863630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147093141	chr4:69863647-69863648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147710149	chr4:69863655-69863656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114186673	chr4:69863662-69863663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80142460	chr4:69863682-69863683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549655643	chr4:69863707-69863708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114405051	chr4:69863720-69863721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111394813	chr4:69863733-69863734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4532300	chr4:69863734-69863735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532665240	chr4:69863760-69863761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372118915	chr4:69863765-69863766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551581915	chr4:69863770-69863771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79354342	chr4:69863771-69863772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534258606	chr4:69863836-69863837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368745982	chr4:69863899-69863900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554024715	chr4:69863936-69863937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4391113	chr4:69863941-69863942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577179435	chr4:69863974-69863975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575224732	chr4:69863997-69863998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114358125	chr4:69863999-69864000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556241999	chr4:69864040-69864041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13148751	chr4:69864055-69864056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545488667	chr4:69864057-69864058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528691677	chr4:69864095-69864096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149678960	chr4:69864138-69864139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373217636	chr4:69864139-69864140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72849682	chr4:69864149-69864150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572254018	chr4:69864170-69864171	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69862600-69863600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:69862800-69863800	Enhancers	Fetal Stomach	stomach
3	chr4:69863600-69864200	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:69866000-69868000	Weak transcription	Liver	Liver
5	chr4:69868000-69868400	Strong transcription	Liver	Liver
6	chr4:69868000-69868800	Enhancers	HepG2	liver
7	chr4:69868400-69869200	Weak transcription	Liver	Liver
8	chr4:69868800-69882000	Weak transcription	HepG2	liver
9	chr4:69869200-69872400	Strong transcription	Liver	Liver
10	chr4:69870000-69870800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:69870200-69870600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:69872400-69873200	Weak transcription	Liver	Liver
13	chr4:69873200-69875200	Strong transcription	Liver	Liver
14	chr4:69875200-69878600	Weak transcription	Liver	Liver
15	chr4:69878600-69879400	Genic enhancers	Liver	Liver
16	chr4:69879400-69880200	Weak transcription	Liver	Liver
17	chr4:69880200-69880800	Enhancers	Liver	Liver
18	chr4:69880800-69882000	Weak transcription	Liver	Liver
19	chr4:69882000-69882200	Flanking Active TSS	Liver	Liver
20	chr4:69882000-69883800	Enhancers	HepG2	liver
21	chr4:69882200-69882400	Enhancers	Liver	Liver
22	chr4:69882400-69882800	Flanking Active TSS	Liver	Liver
23	chr4:69882800-69883000	Active TSS	Liver	Liver
24	chr4:69883000-69883200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:69883000-69883200	Flanking Active TSS	Liver	Liver
26	chr4:69883200-69883400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:69883200-69886200	Active TSS	Liver	Liver
28	chr4:69883600-69883800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:69883800-69884000	Flanking Active TSS	HepG2	liver
30	chr4:69883800-69885000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:69884000-69884800	Enhancers	HepG2	liver
32	chr4:69884200-69884600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:69884800-69885200	Enhancers	A549	lung
34	chr4:69884800-69885400	Flanking Active TSS	HepG2	liver
35	chr4:69884800-69886200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:69885000-69885800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:69885000-69886000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:69885000-69886200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:69885000-69886200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:69885200-69885400	Flanking Active TSS	A549	lung
41	chr4:69885200-69886400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:69885400-69885800	Active TSS	A549	lung
43	chr4:69885400-69885800	Enhancers	HepG2	liver
44	chr4:69885400-69886000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:69885400-69886000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr4:69885400-69886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:69885800-69886000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:69885800-69886200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr4:69885800-69886200	Flanking Active TSS	HepG2	liver
50	chr4:69885800-69887000	Weak transcription	A549	lung

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