Variant report

Variant	nsv1005733
Chromosome Location	chr4:22747306-22833517
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	BCL11A	chr4:22765892-22766128	GM12878	blood:	n/a	n/a
2	BHLHE40	chr4:22780143-22780359	K562	blood:	n/a	n/a
3	BHLHE40	chr4:22765924-22766113	GM12878	blood:	n/a	n/a
4	BRCA1	chr4:22821352-22821365	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:22787429-22787701	HepG2	liver:	n/a	chr4:22787537-22787548 chr4:22787537-22787550
6	CEBPB	chr4:22787439-22787639	A549	lung:	n/a	chr4:22787537-22787548 chr4:22787537-22787550
7	CEBPB	chr4:22754513-22754516	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:22831953-22832235	HepG2	liver:	n/a	chr4:22832095-22832108 chr4:22832096-22832107 chr4:22832095-22832106 chr4:22832095-22832106
9	CEBPB	chr4:22787430-22787647	IMR90	lung:	n/a	chr4:22787537-22787548 chr4:22787537-22787550
10	CHD2	chr4:22813122-22813145	HepG2	liver:	n/a	n/a
11	CHD2	chr4:22780120-22780516	K562	blood:	n/a	n/a
12	CTCF	chr4:22756640-22756790	RPTEC	kidney:	n/a	chr4:22756646-22756659
13	CTCF	chr4:22756540-22756690	HRPEpiC	eye:	n/a	chr4:22756646-22756659
14	CTCF	chr4:22779668-22779831	GM20000	blood:	n/a	n/a
15	CTCF	chr4:22791689-22791721	Lung_OC	lung:	n/a	n/a
16	CTCF	chr4:22774013-22774099	GM20000	blood:	n/a	n/a
17	CTCF	chr4:22756540-22756690	RPTEC	kidney:	n/a	chr4:22756646-22756659
18	CTCF	chr4:22779487-22779531	LNCaP	prostate:	n/a	n/a
19	CTCF	chr4:22774426-22774444	Spleen_OC	spleen:	n/a	n/a
20	E2F4	chr4:22771990-22772190	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr4:22827080-22827097	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr4:22780214-22780410	K562	blood:	n/a	n/a
23	EBF1	chr4:22815438-22815651	GM12878	blood:	n/a	chr4:22815493-22815504
24	EP300	chr4:22765825-22766151	GM12878	blood:	n/a	n/a
25	EP300	chr4:22765824-22766299	GM12878	blood:	n/a	n/a
26	EP300	chr4:22765884-22766118	GM12878	blood:	n/a	n/a
27	FOS	chr4:22759624-22759703	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:22759539-22759739	MCF10A-Er-Src	breast:	n/a	chr4:22759601-22759611 chr4:22759601-22759611
29	GTF2F1	chr4:22787734-22787738	H1-hESC	embryonic stem cell:	n/a	n/a
30	HEY1	chr4:22780262-22780544	K562	blood:	n/a	n/a
31	IRF3	chr4:22808639-22808644	GM12878	blood:	n/a	n/a
32	JUND	chr4:22782143-22782279	H1-hESC	embryonic stem cell:	n/a	chr4:22782200-22782207
33	MAFF	chr4:22780006-22780204	K562	blood:	n/a	chr4:22780036-22780054 chr4:22780077-22780095
34	MAFF	chr4:22782435-22782777	HepG2	liver:	n/a	n/a
35	MAFF	chr4:22779905-22780250	HepG2	liver:	n/a	chr4:22780036-22780054 chr4:22780077-22780095
36	MAFF	chr4:22782462-22782660	K562	blood:	n/a	n/a
37	MAFF	chr4:22800844-22801126	HepG2	liver:	n/a	chr4:22800974-22800992
38	MAFK	chr4:22782598-22782641	Hela-S3	cervix:	n/a	n/a
39	MAFK	chr4:22779838-22780249	HepG2	liver:	n/a	chr4:22780038-22780053
40	MAFK	chr4:22809184-22809319	HepG2	liver:	n/a	n/a
41	MAFK	chr4:22779999-22780090	H1-hESC	embryonic stem cell:	n/a	chr4:22780038-22780053
42	MAFK	chr4:22800858-22801035	IMR90	lung:	n/a	chr4:22800976-22800991
43	MAFK	chr4:22800923-22801131	HepG2	liver:	n/a	chr4:22800976-22800991
44	MAFK	chr4:22782549-22782687	K562	blood:	n/a	n/a
45	MAFK	chr4:22782446-22782790	HepG2	liver:	n/a	n/a
46	MAFK	chr4:22800841-22801142	HepG2	liver:	n/a	chr4:22800976-22800991
47	MAFK	chr4:22810643-22810896	HepG2	liver:	n/a	chr4:22810743-22810758 chr4:22810743-22810759
48	MAFK	chr4:22782458-22782781	HepG2	liver:	n/a	n/a
49	MAFK	chr4:22779905-22780097	K562	blood:	n/a	chr4:22780038-22780053
50	MAFK	chr4:22779949-22780226	IMR90	lung:	n/a	chr4:22780038-22780053

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:22780387-22780437	SK-N-MC	brain:	n/a
2	chr4:22780387-22780437	NT2-D1	testis:	n/a
3	chr4:22780415-22780465	NHDF-neo	bronchial:	n/a
4	chr4:22780491-22780541	AG10803	skin:	n/a
5	chr4:22780415-22780465	Caco-2	colon:	n/a
6	chr4:22780387-22780437	ProgFib	skin:	n/a
7	chr4:22780415-22780465	AG10803	skin:	n/a
8	chr4:22780415-22780465	MCF10A-Er-Src	breast:	n/a
9	chr4:22818572-22818622	Hepatocyte	liver:	n/a
10	chr4:22780415-22780465	PANC-1	pancreas:	n/a
11	chr4:22818572-22818622	HMEC	breast:	n/a
12	chr4:22780491-22780541	HCT-116	colon:	n/a
13	chr4:22780491-22780541	NHDF-neo	bronchial:	n/a
14	chr4:22780387-22780437	NHBE	bronchial:	n/a
15	chr4:22780491-22780541	CMK	blood:	n/a
16	chr4:22780415-22780465	H1-hESC	embryonic stem cell:	embryo
17	chr4:22780491-22780541	HIPEpiC	eye:	n/a
18	chr4:22780415-22780465	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:22780415-22780465	AG09309	skin:	n/a
20	chr4:22780387-22780437	LNCaP	prostate:	n/a
21	chr4:22818572-22818622	NHDF-neo	bronchial:	n/a
22	chr4:22780491-22780541	RPTEC	kidney:	n/a
23	chr4:22818572-22818622	HPAEpiC	pulmonary alveolar:	n/a
24	chr4:22780387-22780437	U87	brain:	n/a
25	chr4:22818572-22818622	BE2_C	brain:	n/a
26	chr4:22780415-22780465	NT2-D1	testis:	n/a
27	chr4:22818572-22818622	CMK	blood:	n/a
28	chr4:22780491-22780541	ECC-1	luminal epithelium:	n/a
29	chr4:22818572-22818622	SK-N-MC	brain:	n/a
30	chr4:22780491-22780541	U87	brain:	n/a
31	chr4:22818572-22818622	Jurkat	blood:	n/a
32	chr4:22780387-22780437	GM19239	blood:	n/a
33	chr4:22780387-22780437	A549	lung:	n/a
34	chr4:22780491-22780541	H1-hESC	embryonic stem cell:	embryo
35	chr4:22818572-22818622	ovcar-3	ovarian:	n/a
36	chr4:22780415-22780465	HIPEpiC	eye:	n/a
37	chr4:22780415-22780465	AG04449	skin:	fetal
38	chr4:22780415-22780465	LNCaP	prostate:	n/a
39	chr4:22818572-22818622	PANC-1	pancreas:	n/a
40	chr4:22780491-22780541	HRCEpiC	kidney:	n/a
41	chr4:22780387-22780437	AG04450	lung:	fetal
42	chr4:22780491-22780541	HL-60	blood:	n/a
43	chr4:22818572-22818622	HL-60	blood:	n/a
44	chr4:22780387-22780437	HUVEC	blood vessel:	n/a
45	chr4:22780415-22780465	HCT-116	colon:	n/a
46	chr4:22780387-22780437	SKMC	muscle:	n/a
47	chr4:22780387-22780437	HRCEpiC	kidney:	n/a
48	chr4:22818572-22818622	NB4	blood:	n/a
49	chr4:22780491-22780541	ovcar-3	ovarian:	n/a
50	chr4:22780415-22780465	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:22816382..22818106-chr4:22821091..22824068,2	K562	blood:
2	chr4:22796834..22798825-chr4:22803164..22804695,2	K562	blood:
3	chr4:22772449..22775297-chr4:22778279..22780984,3	K562	blood:
4	chr4:22816382..22818106-chr4:22821091..22824068,2	K562	blood:
5	chr4:22772449..22775297-chr4:22778279..22780984,3	K562	blood:
6	chr4:22796834..22798825-chr4:22803164..22804695,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOD3-13	chr4:22823158-22825371	NONHSAT095768
2	lnc-SOD3-13	chr4:22825575-22826631	NONHSAT095768

Variant related genes	Relation type
GBA3	TF binding region
GBA3	CpG island

Extended variants
information (count: 3426 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3426 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185478524	chr4:22747307-22747308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530596582	chr4:22747332-22747333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188250037	chr4:22747359-22747360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7673025	chr4:22747373-22747374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572599340	chr4:22747395-22747396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73803316	chr4:22747397-22747398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191156879	chr4:22747415-22747416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553232968	chr4:22747424-22747425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562265241	chr4:22747429-22747430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184006312	chr4:22747433-22747434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538666206	chr4:22747436-22747437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556763630	chr4:22747480-22747481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575441528	chr4:22747523-22747524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4054470	chr4:22747670-22747671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188352179	chr4:22747695-22747696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181256631	chr4:22747703-22747704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574297045	chr4:22747718-22747719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76078274	chr4:22747774-22747775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374628475	chr4:22747788-22747789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560041800	chr4:22747828-22747829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113800906	chr4:22747881-22747882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10517005	chr4:22747886-22747887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111713578	chr4:22747914-22747915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561273204	chr4:22747932-22747933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10516412	chr4:22747936-22747937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146022796	chr4:22747943-22747944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567075924	chr4:22747944-22747945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12639982	chr4:22747984-22747985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57337124	chr4:22747993-22747994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546567339	chr4:22748000-22748001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571551250	chr4:22748021-22748022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543930333	chr4:22748041-22748042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187128972	chr4:22748079-22748080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371533522	chr4:22748081-22748082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563659069	chr4:22748182-22748183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78835785	chr4:22748190-22748191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182493324	chr4:22748191-22748192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536313183	chr4:22748234-22748235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376591768	chr4:22748273-22748274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114788327	chr4:22748287-22748288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541654091	chr4:22748318-22748319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4582135	chr4:22748339-22748340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112588611	chr4:22748370-22748371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564602675	chr4:22748373-22748374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533398621	chr4:22748381-22748382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147818667	chr4:22748403-22748404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141489964	chr4:22748447-22748448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28565876	chr4:22748448-22748449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530815299	chr4:22748460-22748461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542709053	chr4:22748475-22748476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22702600-22752600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:22717800-22753800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:22739400-22750600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:22747000-22749000	Weak transcription	Liver	Liver
5	chr4:22749000-22751600	Strong transcription	Liver	Liver
6	chr4:22750600-22751400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr4:22751400-22752000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:22751600-22752000	Weak transcription	Liver	Liver
9	chr4:22752000-22752200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr4:22752000-22754200	Strong transcription	Liver	Liver
11	chr4:22752200-22752800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:22752600-22753200	Strong transcription	Fetal Intestine Small	intestine
13	chr4:22752800-22753400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:22753200-22772000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:22753400-22755600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:22753800-22754200	Strong transcription	Fetal Intestine Large	intestine
17	chr4:22754200-22755200	Weak transcription	Fetal Intestine Large	intestine
18	chr4:22754200-22756000	Weak transcription	Liver	Liver
19	chr4:22754800-22755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:22755200-22757600	Strong transcription	Fetal Intestine Large	intestine
21	chr4:22755600-22758600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr4:22756000-22756200	Enhancers	Fetal Kidney	kidney
23	chr4:22756000-22758200	Strong transcription	Liver	Liver
24	chr4:22757600-22770400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:22758200-22761000	Weak transcription	Liver	Liver
26	chr4:22758600-22768000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:22761000-22763200	Strong transcription	Liver	Liver
28	chr4:22761200-22762200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:22762200-22764400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:22763200-22767600	Weak transcription	Liver	Liver
31	chr4:22764000-22764800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:22764000-22764800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:22764200-22764600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:22764200-22764600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:22764200-22764800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:22764200-22764800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:22764400-22764800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:22764400-22765000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:22764400-22767000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:22765200-22766400	Enhancers	Primary B cells from peripheral blood	blood
41	chr4:22765400-22765800	Enhancers	Primary B cells from cord blood	blood
42	chr4:22765400-22766400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:22765400-22766400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:22765600-22766200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:22765600-22766600	Enhancers	Primary hematopoietic stem cells	blood
46	chr4:22765800-22767200	Weak transcription	Primary B cells from cord blood	blood
47	chr4:22766000-22766400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:22767000-22768000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:22767200-22767400	Enhancers	Primary B cells from cord blood	blood
50	chr4:22767600-22771400	Strong transcription	Liver	Liver

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