Variant report

Variant	nsv980230
Chromosome Location	chr4:91759179-91760231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:91759674-91760271	GM12878	blood:	n/a	n/a
2	BCL11A	chr4:91759714-91760052	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:91759669-91759907	GM12878	blood:	n/a	n/a
4	CTCF	chr4:91759943-91759975	GM20000	blood:	n/a	n/a
5	CTCF	chr4:91760031-91760089	GM10248	blood:	n/a	n/a
6	CTCF	chr4:91759679-91759743	Medullo	brain:	n/a	n/a
7	CTCF	chr4:91759813-91759876	Spleen_OC	spleen:	n/a	n/a
8	GATA2	chr4:91759871-91760307	K562	blood:	n/a	n/a
9	HEY1	chr4:91759676-91760308	K562	blood:	n/a	n/a
10	HEY1	chr4:91759815-91760296	K562	blood:	n/a	n/a
11	IRF4	chr4:91759724-91760096	GM12878	blood:	n/a	n/a
12	MAZ	chr4:91759444-91759503	HepG2	liver:	n/a	n/a
13	PAX5	chr4:91760097-91760284	GM12878	blood:	n/a	n/a
14	PAX5	chr4:91759663-91760292	GM12878	blood:	n/a	n/a
15	PAX5	chr4:91759626-91760352	GM12878	blood:	n/a	n/a
16	PAX5	chr4:91759788-91760310	GM12878	blood:	n/a	n/a
17	PBX3	chr4:91759804-91759989	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:91760102-91760282	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr4:91759553-91760325	GM12891	blood:	n/a	n/a
20	POLR2A	chr4:91759126-91759243	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:91759575-91760299	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:91759872-91760085	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr4:91759537-91760268	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:91759935-91760259	K562	blood:	n/a	n/a
25	POLR2A	chr4:91759921-91759924	K562	blood:	n/a	n/a
26	POLR2A	chr4:91759684-91759688	K562	blood:	n/a	n/a
27	POLR2A	chr4:91759780-91760268	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:91759790-91760268	MCF-7	breast:	n/a	n/a
29	POLR2A	chr4:91759755-91759834	K562	blood:	n/a	n/a
30	POLR2A	chr4:91759824-91759837	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr4:91759649-91760301	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:91759553-91760326	GM12892	blood:	n/a	n/a
33	POLR2A	chr4:91759572-91760303	GM12891	blood:	n/a	n/a
34	POLR2A	chr4:91759558-91760318	GM12891	blood:	n/a	n/a
35	POLR2A	chr4:91759681-91760288	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:91759940-91760268	MCF-7	breast:	n/a	n/a
37	POLR2A	chr4:91759780-91760094	A549	lung:	n/a	n/a
38	POLR2A	chr4:91759954-91760268	MCF-7	breast:	n/a	n/a
39	POLR2A	chr4:91759972-91760258	A549	lung:	n/a	n/a
40	POLR2A	chr4:91759506-91760374	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:91759903-91759919	K562	blood:	n/a	n/a
42	POLR2A	chr4:91759477-91759706	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr4:91759625-91760268	ProgFib	skin:	n/a	n/a
44	POLR2A	chr4:91759563-91760314	GM12892	blood:	n/a	n/a
45	POLR2A	chr4:91759782-91759937	A549	lung:	n/a	n/a
46	POLR2A	chr4:91759964-91760258	A549	lung:	n/a	n/a
47	POLR2A	chr4:91759844-91760268	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr4:91759686-91760274	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:91759528-91759535	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:91759591-91760284	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:91760225-91760275	HUVEC	blood vessel:	n/a
2	chr4:91760225-91760275	HCF	heart:	n/a
3	chr4:91760141-91760191	NHBE	bronchial:	n/a
4	chr4:91760229-91760279	GM19239	blood:	n/a
5	chr4:91760141-91760191	Jurkat	blood:	n/a
6	chr4:91760141-91760191	HMEC	breast:	n/a
7	chr4:91760229-91760279	HepG2	liver:	n/a
8	chr4:91760141-91760191	BJ	skin:	n/a
9	chr4:91760225-91760275	MCF10A-Er-Src	breast:	n/a
10	chr4:91760229-91760279	NHBE	bronchial:	n/a
11	chr4:91760229-91760279	HRE	kidney:	n/a
12	chr4:91760225-91760275	Caco-2	colon:	n/a
13	chr4:91760141-91760191	HepG2	liver:	n/a
14	chr4:91760225-91760275	SAEC	small airway:	n/a
15	chr4:91760225-91760275	ECC-1	luminal epithelium:	n/a
16	chr4:91760229-91760279	HL-60	blood:	n/a
17	chr4:91760229-91760279	GM12878	blood:	n/a
18	chr4:91760229-91760279	ECC-1	luminal epithelium:	n/a
19	chr4:91760141-91760191	ECC-1	luminal epithelium:	n/a
20	chr4:91760225-91760275	NH-A	brain:	n/a
21	chr4:91760225-91760275	NHBE	bronchial:	n/a
22	chr4:91760229-91760279	NT2-D1	testis:	n/a
23	chr4:91760141-91760191	GM12892	blood:	n/a
24	chr4:91760229-91760279	GM12892	blood:	n/a
25	chr4:91760229-91760279	PrEC	prostate:	n/a
26	chr4:91760229-91760279	AG04450	lung:	fetal
27	chr4:91760225-91760275	ovcar-3	ovarian:	n/a
28	chr4:91760141-91760191	GM06990	blood:	n/a
29	chr4:91760229-91760279	HRCEpiC	kidney:	n/a
30	chr4:91760229-91760279	AoSMC	blood vessel:	n/a
31	chr4:91760229-91760279	HMEC	breast:	n/a
32	chr4:91760229-91760279	AG10803	skin:	n/a
33	chr4:91760141-91760191	LNCaP	prostate:	n/a
34	chr4:91760225-91760275	SK-N-SH_RA	brain:	n/a
35	chr4:91760141-91760191	SKMC	muscle:	n/a
36	chr4:91760141-91760191	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:91760225-91760275	IMR90	lung:	fetal
38	chr4:91760225-91760275	AG09309	skin:	n/a
39	chr4:91760229-91760279	A549	lung:	n/a
40	chr4:91760229-91760279	AG04449	skin:	fetal
41	chr4:91760229-91760279	SK-N-SH_RA	brain:	n/a
42	chr4:91760141-91760191	AoSMC	blood vessel:	n/a
43	chr4:91760225-91760275	RPTEC	kidney:	n/a
44	chr4:91760225-91760275	GM12878	blood:	n/a
45	chr4:91760225-91760275	HEEpiC	esophagus:	n/a
46	chr4:91760225-91760275	AoSMC	blood vessel:	n/a
47	chr4:91760141-91760191	NHDF-neo	bronchial:	n/a
48	chr4:91760229-91760279	T-47D	breast:	n/a
49	chr4:91760141-91760191	HL-60	blood:	n/a
50	chr4:91760141-91760191	SK-N-SH	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-763F8.1.1-2	chr4:91759652-91759918	NONHSAT097413
2	lnc-RP11-763F8.1.1-2	chr4:91759966-91760263	NONHSAT097413

No data

Variant related genes	Relation type
TMSB4XP8	TF binding region
TMSB4XP8	CpG island

Extended variants
information (count: 60 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140559287	chr4:91759181-91759182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575173850	chr4:91759207-91759208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544133763	chr4:91759232-91759233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56777553	chr4:91759233-91759234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577787841	chr4:91759251-91759252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544775884	chr4:91759260-91759261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73834564	chr4:91759325-91759326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77515326	chr4:91759396-91759397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192818366	chr4:91759483-91759484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149861817	chr4:91759494-91759495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562901991	chr4:91759513-91759514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112301957	chr4:91759520-91759521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145846208	chr4:91759527-91759528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78875809	chr4:91759547-91759548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183607002	chr4:91759585-91759586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201712597	chr4:91759633-91759634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534411632	chr4:91759634-91759635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199754160	chr4:91759635-91759636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58906089	chr4:91759636-91759637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547712870	chr4:91759637-91759638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559519466	chr4:91759710-91759711	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372607862	chr4:91759711-91759712	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs566556507	chr4:91759729-91759730	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs535198094	chr4:91759741-91759742	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs554927898	chr4:91759792-91759793	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs111939406	chr4:91759793-91759794	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571540079	chr4:91759795-91759796	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs9637600	chr4:91759796-91759797	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs574909059	chr4:91759869-91759870	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs112663645	chr4:91759894-91759895	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs112674231	chr4:91759898-91759899	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs539167797	chr4:91759906-91759907	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs558034853	chr4:91759936-91759937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372066114	chr4:91759937-91759938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547548418	chr4:91759958-91759959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367748745	chr4:91760011-91760012	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs201371400	chr4:91760017-91760018	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs202118492	chr4:91760024-91760025	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs112380382	chr4:91760035-91760036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs112478986	chr4:91760047-91760048	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs11544914	chr4:91760048-91760049	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs11544910	chr4:91760050-91760051	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11559253	chr4:91760053-91760054	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369948815	chr4:91760057-91760058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs142912668	chr4:91760085-91760086	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs151072829	chr4:91760088-91760089	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs562839766	chr4:91760120-91760121	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200975463	chr4:91760143-91760144	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs267600297	chr4:91760159-91760160	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs531761554	chr4:91760173-91760174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	21272361	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91746200-91761400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:91752400-91775000	Weak transcription	Pancreas	Pancrea
3	chr4:91754600-91771400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:91759000-91762000	Weak transcription	HUVEC	blood vessel
5	chr4:91759400-91761800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links