Variant report

Variant	nsv966297
Chromosome Location	chr4:98946575-98965767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:98950612-98950807	HepG2	liver:	n/a	chr4:98950662-98950673
2	CTCF	chr4:98949080-98949230	NHEK	skin:	n/a	n/a
3	CTCF	chr4:98948982-98949244	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr4:98949000-98949150	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr4:98949120-98949270	A549	lung:	n/a	n/a
6	CTCF	chr4:98949000-98949150	A549	lung:	n/a	n/a
7	CTCF	chr4:98949090-98949210	LNCaP	prostate:	n/a	n/a
8	CTCF	chr4:98948920-98949281	MCF-7	breast:	n/a	n/a
9	CTCF	chr4:98949060-98949210	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr4:98949060-98949210	HepG2	liver:	n/a	n/a
11	CTCF	chr4:98949080-98949230	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr4:98947620-98947770	HL-60	blood:	n/a	n/a
13	CTCF	chr4:98949100-98949250	Caco-2	colon:	n/a	n/a
14	CTCF	chr4:98949060-98949210	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr4:98949060-98949210	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr4:98949040-98949190	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr4:98949020-98949170	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr4:98949020-98949170	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr4:98949080-98949230	HMF	breast:	n/a	n/a
20	CTCF	chr4:98949100-98949250	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:98949060-98949210	BE2_C	brain:	n/a	n/a
22	CTCF	chr4:98949060-98949210	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:98965684-98965719	GM13976	blood:	n/a	n/a
24	CTCF	chr4:98948807-98949369	A549	lung:	n/a	n/a
25	CTCF	chr4:98949120-98949270	RPTEC	kidney:	n/a	n/a
26	CTCF	chr4:98949100-98949250	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr4:98949040-98949190	HCFaa	heart:	n/a	n/a
28	CTCF	chr4:98949080-98949230	Caco-2	colon:	n/a	n/a
29	CTCF	chr4:98946949-98946974	Medullo	brain:	n/a	n/a
30	CTCF	chr4:98949099-98949221	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr4:98949060-98949210	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr4:98949100-98949226	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr4:98949060-98949210	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr4:98949111-98949212	K562	blood:	n/a	n/a
35	CTCF	chr4:98949185-98949206	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr4:98949080-98949230	BE2_C	brain:	n/a	n/a
37	CTCF	chr4:98949120-98949270	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr4:98949080-98949230	SAEC	small airway:	n/a	n/a
39	CTCF	chr4:98949140-98949290	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr4:98948760-98948910	GM12874	blood:	n/a	n/a
41	CTCF	chr4:98949080-98949230	HEK293	kidney:	n/a	n/a
42	CTCF	chr4:98949080-98949230	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr4:98949120-98949270	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr4:98949051-98949274	MCF-7	breast:	n/a	n/a
45	CTCF	chr4:98949121-98949227	HepG2	liver:	n/a	n/a
46	CTCF	chr4:98949040-98949190	HCT-116	colon:	n/a	n/a
47	CTCF	chr4:98949120-98949270	GM12875	blood:	n/a	n/a
48	CTCF	chr4:98947460-98947610	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:98949140-98949290	HRE	kidney:	n/a	n/a
50	CTCF	chr4:98949040-98949190	GM12873	blood:	n/a	n/a

No data

Variant related genes	Relation type
DUTP8	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535884534	chr4:98946819-98946820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554222084	chr4:98946829-98946830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572443879	chr4:98946842-98946843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs6848786	chr4:98946883-98946884	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576824416	chr4:98946916-98946917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150075072	chr4:98946917-98946918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs193301527	chr4:98946924-98946925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184240863	chr4:98946948-98946949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562473975	chr4:98946949-98946950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189596109	chr4:98946952-98946953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541492335	chr4:98946968-98946969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559741468	chr4:98946971-98946972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs527248965	chr4:98946983-98946984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs371193700	chr4:98946987-98946988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545729601	chr4:98947020-98947021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564400043	chr4:98947027-98947028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531432239	chr4:98947045-98947046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549930513	chr4:98947052-98947053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568126336	chr4:98947055-98947056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567167410	chr4:98947119-98947120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529428405	chr4:98947150-98947151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547864481	chr4:98947175-98947176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544004872	chr4:98947180-98947181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566089167	chr4:98947191-98947192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539832836	chr4:98947194-98947195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558214396	chr4:98947212-98947213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570309023	chr4:98947218-98947219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192387983	chr4:98947246-98947247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536561501	chr4:98947252-98947253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184051689	chr4:98947268-98947269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138481320	chr4:98947269-98947270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565316567	chr4:98947291-98947292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573869547	chr4:98947296-98947297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541531518	chr4:98947307-98947308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553413633	chr4:98947314-98947315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6854919	chr4:98947326-98947327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545369754	chr4:98947338-98947339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564255511	chr4:98947358-98947359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531647637	chr4:98947384-98947385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6831925	chr4:98947401-98947402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188691159	chr4:98947410-98947411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529058236	chr4:98947431-98947432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547951931	chr4:98947454-98947455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181466527	chr4:98947488-98947489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371166146	chr4:98947493-98947494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186252032	chr4:98947537-98947538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551737903	chr4:98947546-98947547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149262070	chr4:98947616-98947617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537749955	chr4:98947624-98947625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555753880	chr4:98947710-98947711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98946800-98947000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:98947000-98948800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:98948400-98949600	Enhancers	Fetal Brain Male	brain
4	chr4:98948800-98949600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links