Variant report

Variant	nsv829945
Chromosome Location	chr4:59432673-59619034
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	ATF2	chr4:59466520-59466896	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:59468281-59468492	GM12878	blood:	n/a	n/a
3	BATF	chr4:59456922-59457244	GM12878	blood:	n/a	chr4:59457073-59457084
4	BATF	chr4:59468251-59468505	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:59468957-59469159	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr4:59453895-59454384	HepG2	liver:	n/a	n/a
7	BHLHE40	chr4:59615529-59615821	HepG2	liver:	n/a	n/a
8	BRCA1	chr4:59599192-59599204	GM12878	blood:	n/a	n/a
9	CEBPB	chr4:59564234-59564515	HepG2	liver:	n/a	chr4:59564356-59564367
10	CEBPB	chr4:59608719-59608872	H1-hESC	embryonic stem cell:	n/a	chr4:59608825-59608836
11	CEBPB	chr4:59564359-59564399	K562	blood:	n/a	n/a
12	CEBPB	chr4:59457665-59457786	K562	blood:	n/a	n/a
13	CEBPB	chr4:59600491-59600824	IMR90	lung:	n/a	chr4:59600651-59600662
14	CEBPB	chr4:59472445-59472922	A549	lung:	n/a	chr4:59472661-59472672
15	CEBPB	chr4:59472521-59472830	K562	blood:	n/a	chr4:59472661-59472672
16	CEBPB	chr4:59503710-59503939	HepG2	liver:	n/a	chr4:59503841-59503852 chr4:59503840-59503851
17	CEBPB	chr4:59563598-59563914	HepG2	liver:	n/a	chr4:59563746-59563757
18	CEBPB	chr4:59472535-59472760	ECC-1	luminal epithelium:	n/a	chr4:59472661-59472672
19	CEBPB	chr4:59472478-59472827	A549	lung:	n/a	chr4:59472661-59472672
20	CEBPB	chr4:59566333-59566701	HepG2	liver:	n/a	chr4:59566509-59566520
21	CEBPB	chr4:59600539-59600768	H1-hESC	embryonic stem cell:	n/a	chr4:59600651-59600662
22	CEBPB	chr4:59466559-59466749	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr4:59471131-59471438	IMR90	lung:	n/a	chr4:59471282-59471293
24	CEBPB	chr4:59472518-59472832	H1-hESC	embryonic stem cell:	n/a	chr4:59472661-59472672
25	CEBPB	chr4:59566391-59566648	K562	blood:	n/a	chr4:59566509-59566520
26	CEBPB	chr4:59472487-59472850	IMR90	lung:	n/a	chr4:59472661-59472672
27	CEBPB	chr4:59566358-59566685	IMR90	lung:	n/a	chr4:59566509-59566520
28	CEBPB	chr4:59589960-59590180	IMR90	lung:	n/a	n/a
29	CEBPB	chr4:59566351-59566679	A549	lung:	n/a	chr4:59566509-59566520
30	CEBPB	chr4:59472508-59472828	Hela-S3	cervix:	n/a	chr4:59472661-59472672
31	CEBPB	chr4:59472494-59472835	HepG2	liver:	n/a	chr4:59472661-59472672
32	CEBPB	chr4:59433275-59433358	HepG2	liver:	n/a	chr4:59433335-59433346 chr4:59433333-59433344 chr4:59433333-59433346
33	CEBPB	chr4:59608678-59608980	HepG2	liver:	n/a	chr4:59608825-59608836
34	CEBPB	chr4:59600478-59600849	A549	lung:	n/a	chr4:59600651-59600662
35	CEBPB	chr4:59471106-59471449	HepG2	liver:	n/a	chr4:59471282-59471293
36	CEBPB	chr4:59600515-59600769	HepG2	liver:	n/a	chr4:59600651-59600662
37	CEBPB	chr4:59600516-59600766	A549	lung:	n/a	chr4:59600651-59600662
38	CEBPB	chr4:59471197-59471377	H1-hESC	embryonic stem cell:	n/a	chr4:59471282-59471293
39	CEBPB	chr4:59564300-59564437	H1-hESC	embryonic stem cell:	n/a	chr4:59564356-59564367
40	CEBPB	chr4:59471215-59471424	A549	lung:	n/a	chr4:59471282-59471293
41	CEBPB	chr4:59608660-59608956	A549	lung:	n/a	chr4:59608825-59608836
42	CEBPB	chr4:59589974-59590102	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:59569439-59569527	HepG2	liver:	n/a	chr4:59569475-59569486
44	CEBPB	chr4:59563661-59563861	A549	lung:	n/a	chr4:59563746-59563757
45	CEBPZ	chr4:59514907-59515006	HepG2	liver:	n/a	n/a
46	CHD2	chr4:59466485-59466790	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:59599220-59599455	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:59599152-59599529	IMR90	lung:	n/a	n/a
49	CTCF	chr4:59589831-59589847	Lung_OC	lung:	n/a	n/a
50	CTCF	chr4:59599280-59599430	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:
2	chr4:59616982..59619599-chr6:27805611..27807692,2	MCF-7	breast:
3	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2B-5	chr4:59433707-59433845	NONHSAT096574
2	lnc-POLR2B-5	chr4:59433681-59433840	XLOC_003550
3	lnc-POLR2B-5	chr4:59456313-59456332	NONHSAT096574
4	lnc-POLR2B-5	chr4:59454099-59454235	NONHSAT096574
5	lnc-IGFBP7-12	chr4:59535492-59535997	l_2652_chr4:59411765-59536344_testes
6	lnc-IGFBP7-12	chr4:59536417-59536488	l_2652_chr4:59411765-59536344_testes
7	lnc-IGFBP7-12	chr4:59535998-59536344	l_2652_chr4:59411765-59536344_testes

Variant related genes	Relation type
ENSG00000250078	TF binding region
ENSG00000233822	chromatin interactions
ENSG00000184348	chromatin interactions
WEE1	miRNA target sites

Extended variants
information (count: 2246 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2246 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144258919	chr4:59432676-59432677	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs529391940	chr4:59432720-59432721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77959786	chr4:59432769-59432770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377421015	chr4:59432771-59432772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562972709	chr4:59432772-59432773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533546571	chr4:59432804-59432805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555811550	chr4:59432828-59432829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112440481	chr4:59432889-59432890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372085581	chr4:59432892-59432893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567161511	chr4:59432918-59432919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184920785	chr4:59432929-59432930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546621580	chr4:59432946-59432947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147795171	chr4:59432984-59432985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535232608	chr4:59433000-59433001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556998067	chr4:59433009-59433010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569005384	chr4:59433047-59433048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539240692	chr4:59433061-59433062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113926267	chr4:59433106-59433107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572807742	chr4:59433124-59433125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376747923	chr4:59433181-59433182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540111442	chr4:59433188-59433189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186834118	chr4:59433223-59433224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73195404	chr4:59433252-59433253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544405877	chr4:59433283-59433284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562993384	chr4:59433311-59433312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3886311	chr4:59433332-59433333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533398145	chr4:59433336-59433337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs5858502	chr4:59433345-59433346	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs398083105	chr4:59433354-59433355	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs397993550	chr4:59433355-59433356	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369875113	chr4:59433366-59433367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545627672	chr4:59433390-59433391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191462129	chr4:59433393-59433394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568813	chr4:59433415-59433416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560621626	chr4:59433452-59433453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148832872	chr4:59433480-59433481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569658700	chr4:59433484-59433485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536636246	chr4:59433524-59433525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549662299	chr4:59433600-59433601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183586589	chr4:59433611-59433612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189451789	chr4:59433618-59433619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550443279	chr4:59433632-59433633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182284915	chr4:59433679-59433680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142499201	chr4:59433722-59433723	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs539102705	chr4:59433723-59433724	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs17089421	chr4:59433731-59433732	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566298691	chr4:59433742-59433743	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs185433835	chr4:59433763-59433764	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs282718	chr4:59433764-59433765	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534436504	chr4:59433768-59433769	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59432000-59433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:59432200-59433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:59432200-59433000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:59432200-59433000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:59432400-59432800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:59432400-59433000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:59432400-59433000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:59433800-59434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:59442000-59442200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:59451600-59451800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:59451800-59453800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:59453800-59454200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:59461400-59461600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:59461400-59461600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:59461600-59462600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:59461600-59463200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:59462600-59463800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:59462800-59463400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:59462800-59463400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:59462800-59463600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:59462800-59463800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:59463000-59463600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:59463200-59463400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:59463200-59463600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:59463200-59463600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:59463200-59463600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:59463400-59465200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:59463400-59466400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:59463400-59469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:59463600-59464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:59463600-59465600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:59463600-59466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:59463600-59466600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:59463800-59465000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:59463800-59465800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:59464800-59465000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr4:59465000-59466000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:59465000-59467000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:59465200-59465400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:59465200-59467600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:59465400-59469400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:59465600-59469600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:59465800-59470800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:59466000-59466600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:59466000-59467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:59466400-59467000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:59466600-59467200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:59466600-59468200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:59467000-59468200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:59467000-59468400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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