Variant report

Variant	nsv878742
Chromosome Location	chr4:20473799-20527864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:342)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:20481892-20482156	K562	blood:	n/a	n/a
2	BACH1	chr4:20494268-20494388	K562	blood:	n/a	n/a
3	BCL3	chr4:20500584-20500882	GM12878	blood:	n/a	n/a
4	BHLHE40	chr4:20481872-20482052	K562	blood:	n/a	n/a
5	BHLHE40	chr4:20513817-20514319	K562	blood:	n/a	n/a
6	CCNT2	chr4:20514742-20514957	K562	blood:	n/a	n/a
7	CEBPB	chr4:20475259-20475459	HepG2	liver:	n/a	chr4:20475307-20475320 chr4:20475307-20475318
8	CEBPB	chr4:20507606-20507870	K562	blood:	n/a	chr4:20507747-20507760 chr4:20507747-20507758 chr4:20507748-20507759
9	CEBPB	chr4:20508401-20508917	HCT-116	colon:	n/a	n/a
10	CEBPB	chr4:20507582-20507902	HepG2	liver:	n/a	chr4:20507747-20507760 chr4:20507747-20507758 chr4:20507748-20507759
11	CEBPB	chr4:20508429-20508893	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr4:20508447-20508887	IMR90	lung:	n/a	n/a
13	CEBPB	chr4:20507667-20507814	H1-hESC	embryonic stem cell:	n/a	chr4:20507747-20507760 chr4:20507747-20507758 chr4:20507748-20507759
14	CEBPB	chr4:20522479-20522843	IMR90	lung:	n/a	n/a
15	CEBPB	chr4:20507632-20507883	Hela-S3	cervix:	n/a	chr4:20507747-20507760 chr4:20507747-20507758 chr4:20507748-20507759
16	CEBPB	chr4:20481834-20482202	K562	blood:	n/a	n/a
17	CEBPB	chr4:20503875-20504101	K562	blood:	n/a	n/a
18	CEBPB	chr4:20517405-20517547	K562	blood:	n/a	n/a
19	CEBPB	chr4:20522461-20522833	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr4:20481834-20482077	K562	blood:	n/a	n/a
21	CEBPB	chr4:20507575-20507930	IMR90	lung:	n/a	chr4:20507747-20507760 chr4:20507747-20507758 chr4:20507748-20507759
22	CEBPB	chr4:20503838-20504090	IMR90	lung:	n/a	n/a
23	CEBPB	chr4:20495288-20495788	MCF-7	breast:	n/a	n/a
24	CEBPB	chr4:20495323-20495999	IMR90	lung:	n/a	n/a
25	CEBPB	chr4:20508611-20508758	K562	blood:	n/a	n/a
26	CEBPB	chr4:20497725-20498068	IMR90	lung:	n/a	chr4:20497881-20497893
27	CHD2	chr4:20508439-20508812	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr4:20492420-20492570	HCT-116	colon:	n/a	n/a
29	CTCF	chr4:20516693-20516747	HepG2	liver:	n/a	n/a
30	CTCF	chr4:20492460-20492610	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr4:20492440-20492590	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr4:20492480-20492630	HepG2	liver:	n/a	n/a
33	CTCF	chr4:20492480-20492630	AG04449	skin:	n/a	n/a
34	CTCF	chr4:20501163-20501201	Fibrobl	skin:	n/a	n/a
35	CTCF	chr4:20492440-20492590	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr4:20492460-20492610	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr4:20492500-20492650	AG04450	lung:	n/a	n/a
38	CTCF	chr4:20492484-20492588	MCF-7	breast:	n/a	n/a
39	CTCF	chr4:20492380-20492530	AG09309	skin:	n/a	n/a
40	CTCF	chr4:20492500-20492650	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr4:20492420-20492570	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr4:20480140-20480290	GM12869	blood:	n/a	n/a
43	CTCF	chr4:20492440-20492590	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr4:20492440-20492590	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr4:20492495-20492616	MCF-7	breast:	n/a	n/a
46	CTCF	chr4:20492420-20492570	NHEK	skin:	n/a	n/a
47	CTCF	chr4:20492460-20492610	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr4:20492486-20492619	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr4:20492480-20492630	BE2_C	brain:	n/a	n/a
50	CTCF	chr4:20525820-20525970	HRPEpiC	eye:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:20478804..20484110-chr4:20484311..20489039,6	K562	blood:
2	chr4:20483512..20485681-chr4:20488702..20490810,2	K562	blood:
3	chr4:20508646..20510343-chr4:20511869..20513912,2	K562	blood:
4	chr4:20483363..20485118-chr4:20485366..20487379,2	MCF-7	breast:
5	chr4:20523924..20528814-chr4:20529979..20533710,4	K562	blood:
6	chr4:20488243..20490673-chr4:20492136..20494455,3	K562	blood:
7	chr4:20487442..20489912-chr4:20501237..20503956,2	K562	blood:
8	chr4:20523924..20526159-chr4:20529979..20531952,2	K562	blood:
9	chr4:20484129..20486943-chr4:20489263..20491359,2	MCF-7	breast:
10	chr4:20492411..20494046-chr4:20509855..20511379,2	K562	blood:
11	chr4:20492411..20494046-chr4:20509855..20511379,2	K562	blood:
12	chr4:20483512..20485681-chr4:20488702..20490810,2	K562	blood:
13	chr4:20488243..20490673-chr4:20492136..20494455,3	K562	blood:
14	chr4:20487442..20489912-chr4:20501237..20503956,2	K562	blood:
15	chr4:20486831..20489092-chr4:20495451..20497363,2	MCF-7	breast:
16	chr4:20483363..20485118-chr4:20485366..20487379,2	MCF-7	breast:
17	chr4:20478804..20484110-chr4:20484311..20489039,6	K562	blood:
18	chr4:20510194..20512520-chr4:20515182..20516955,2	MCF-7	breast:
19	chr4:20484129..20486943-chr4:20489263..20491359,2	MCF-7	breast:
20	chr4:20510194..20512520-chr4:20515182..20516955,2	MCF-7	breast:
21	chr4:20508646..20510343-chr4:20511869..20513912,2	K562	blood:
22	chr4:20486831..20489092-chr4:20495451..20497363,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR218-1	TF binding region

Extended variants
information (count: 2261 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2261 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1902845	chr4:20473799-20473800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182854241	chr4:20473806-20473807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537936867	chr4:20473831-20473832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374806884	chr4:20473832-20473833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368539573	chr4:20473847-20473848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74814683	chr4:20473851-20473852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543661475	chr4:20473852-20473853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564749204	chr4:20473866-20473867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546128488	chr4:20473869-20473870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578105037	chr4:20473870-20473871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200950985	chr4:20473875-20473876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202075683	chr4:20473877-20473878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547801955	chr4:20473880-20473881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559817507	chr4:20473881-20473882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527569410	chr4:20473885-20473886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370244802	chr4:20473889-20473890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376476706	chr4:20473891-20473892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76867217	chr4:20473899-20473900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373745680	chr4:20473900-20473901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74988356	chr4:20473901-20473902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540791667	chr4:20473905-20473906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559495612	chr4:20473907-20473908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs811709	chr4:20473908-20473909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370928675	chr4:20473909-20473910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111106862	chr4:20473910-20473911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377119024	chr4:20473917-20473918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368405967	chr4:20473920-20473921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374534426	chr4:20473921-20473922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370598867	chr4:20473925-20473926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548221580	chr4:20473930-20473931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561650646	chr4:20473937-20473938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34075845	chr4:20473939-20473940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372707093	chr4:20473940-20473941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530860577	chr4:20473941-20473942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112396575	chr4:20473943-20473944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550596359	chr4:20473944-20473945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559345671	chr4:20473948-20473949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570670996	chr4:20473976-20473977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538005271	chr4:20473981-20473982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549569316	chr4:20473991-20473992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367786465	chr4:20473993-20473994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564500559	chr4:20473999-20474000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7437217	chr4:20474000-20474001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572037932	chr4:20474001-20474002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200697245	chr4:20474008-20474009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201630557	chr4:20474009-20474010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374934577	chr4:20474012-20474013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566109126	chr4:20474018-20474019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539086287	chr4:20474020-20474021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367864419	chr4:20474026-20474027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20449600-20486000	Weak transcription	Fetal Lung	lung
2	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:20465000-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20466600-20481800	Weak transcription	NHDF-Ad	bronchial
5	chr4:20466600-20484800	Weak transcription	Osteobl	bone
6	chr4:20466800-20489200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:20466800-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:20479200-20479400	Enhancers	Colon Smooth Muscle	Colon
9	chr4:20479200-20479400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr4:20479400-20479800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:20479400-20480000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:20480000-20480800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:20480200-20493400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:20481800-20484800	Active TSS	K562	blood
15	chr4:20481800-20486000	Strong transcription	NHDF-Ad	bronchial
16	chr4:20482600-20487400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:20483200-20490400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:20484600-20484800	Enhancers	NHLF	lung
19	chr4:20484800-20485200	Enhancers	Osteobl	bone
20	chr4:20484800-20495200	Weak transcription	NHLF	lung
21	chr4:20485200-20489200	Weak transcription	Osteobl	bone
22	chr4:20485400-20491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:20486000-20489200	Weak transcription	NHDF-Ad	bronchial
24	chr4:20486000-20491200	Strong transcription	Fetal Lung	lung
25	chr4:20487400-20488200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:20487800-20488200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:20487800-20488200	Enhancers	Fetal Intestine Small	intestine
28	chr4:20488000-20490000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:20488200-20488400	Enhancers	Colon Smooth Muscle	Colon
30	chr4:20488200-20490400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:20488200-20491200	Weak transcription	Fetal Intestine Small	intestine
32	chr4:20488200-20493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:20488400-20489200	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:20489200-20489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:20489200-20489600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:20489200-20489800	Enhancers	Colon Smooth Muscle	Colon
37	chr4:20489200-20489800	Enhancers	NHDF-Ad	bronchial
38	chr4:20489200-20489800	Enhancers	Osteobl	bone
39	chr4:20489200-20490000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
41	chr4:20489600-20489800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:20489600-20490000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:20489600-20495000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:20489800-20490000	Enhancers	Rectal Smooth Muscle	rectum
45	chr4:20489800-20490200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr4:20489800-20490600	Weak transcription	Osteobl	bone
47	chr4:20489800-20493400	Weak transcription	NHDF-Ad	bronchial
48	chr4:20489800-20494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:20490000-20490800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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