Variant report

Variant	nsv961224
Chromosome Location	chr19:43164215-43177466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr19:43168346-43168356	GM12878	blood:	n/a	n/a
2	CTCF	chr19:43174880-43175030	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:43166980-43167130	A549	lung:	n/a	n/a
4	CTCF	chr19:43174760-43174910	HepG2	liver:	n/a	n/a
5	CTCF	chr19:43177090-43177096	Lung_OC	lung:	n/a	n/a
6	CTCF	chr19:43166993-43167137	MCF-7	breast:	n/a	n/a
7	CTCF	chr19:43166982-43167159	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:43166920-43167070	SAEC	small airway:	n/a	n/a
9	CTCF	chr19:43174810-43174946	MCF-7	breast:	n/a	n/a
10	CTCF	chr19:43166960-43167110	NHEK	skin:	n/a	n/a
11	CTCF	chr19:43166978-43167170	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:43167040-43167190	NHEK	skin:	n/a	n/a
13	CTCF	chr19:43174860-43175010	A549	lung:	n/a	n/a
14	CTCF	chr19:43166987-43167133	NHEK	skin:	n/a	n/a
15	CTCF	chr19:43166980-43167130	MCF-7	breast:	n/a	n/a
16	CTCF	chr19:43167000-43167150	HMEC	breast:	n/a	n/a
17	CTCF	chr19:43164970-43165021	GM20000	blood:	n/a	n/a
18	CTCF	chr19:43166960-43167110	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr19:43166900-43167050	A549	lung:	n/a	n/a
20	CTCF	chr19:43174812-43174911	HepG2	liver:	n/a	n/a
21	CTCF	chr19:43172073-43172140	GM10248	blood:	n/a	n/a
22	CTCF	chr19:43167020-43167170	HMEC	breast:	n/a	n/a
23	CTCF	chr19:43167020-43167170	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:43174832-43174940	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:43166992-43167127	Fibrobl	skin:	n/a	n/a
26	CTCF	chr19:43174819-43174925	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:43176972-43177089	Lung_OC	lung:	n/a	n/a
28	CTCF	chr19:43167043-43167084	A549	lung:	n/a	n/a
29	CTCF	chr19:43174700-43174850	A549	lung:	n/a	n/a
30	CTCF	chr19:43174780-43174930	HEK293	kidney:	n/a	n/a
31	CTCF	chr19:43164914-43165077	A549	lung:	n/a	n/a
32	CTCF	chr19:43165200-43165350	HepG2	liver:	n/a	chr19:43165212-43165230 chr19:43165207-43165228 chr19:43165219-43165226 chr19:43165213-43165229
33	CTCF	chr19:43174759-43174940	HepG2	liver:	n/a	n/a
34	CTCF	chr19:43166965-43167209	MCF-7	breast:	n/a	n/a
35	CTCF	chr19:43166984-43167132	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:43167048-43167092	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr19:43167040-43167190	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr19:43166900-43167050	GM12870	blood:	n/a	n/a
39	CTCF	chr19:43174820-43174970	K562	blood:	n/a	n/a
40	GATA2	chr19:43171870-43172145	K562	blood:	n/a	n/a
41	MYC	chr19:43176136-43176208	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:43167035-43167231	A549	lung:	n/a	n/a
43	POLR2A	chr19:43175475-43175651	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:43176917-43177011	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:43167237-43167255	A549	lung:	n/a	n/a
46	POLR2A	chr19:43176903-43176983	ProgFib	skin:	n/a	n/a
47	STAT3	chr19:43165107-43165143	MCF10A-Er-Src	breast:	n/a	n/a
48	ZBTB33	chr19:43174447-43174739	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:43110921..43111495-chr19:43166501..43167328,2	MCF-7	breast:
2	chr19:43167897..43169449-chr19:43169988..43172834,2	MCF-7	breast:
3	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:
4	chr19:43167897..43169449-chr19:43169988..43172834,2	MCF-7	breast:
5	chr19:43139185..43139985-chr19:43166999..43167914,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS10P28	TF binding region

Extended variants
information (count: 344 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75201884	chr19:43164226-43164227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76422464	chr19:43164227-43164228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181690664	chr19:43164273-43164274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553755770	chr19:43164275-43164276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573642350	chr19:43164313-43164314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527342341	chr19:43164339-43164340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542750528	chr19:43164349-43164350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184253368	chr19:43164385-43164386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369138083	chr19:43164386-43164387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545284131	chr19:43164391-43164392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7255150	chr19:43164418-43164419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs151141207	chr19:43164505-43164506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374290766	chr19:43164607-43164608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79971875	chr19:43164608-43164609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546642724	chr19:43164646-43164647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547453248	chr19:43164670-43164671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561375148	chr19:43164676-43164677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530133749	chr19:43164692-43164693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549864278	chr19:43164706-43164707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569873273	chr19:43164817-43164818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140865390	chr19:43164818-43164819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188670999	chr19:43164833-43164834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181241675	chr19:43164850-43164851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143059259	chr19:43164851-43164852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553482005	chr19:43164890-43164891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186239356	chr19:43164914-43164915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147459346	chr19:43164927-43164928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551973205	chr19:43165031-43165032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148498533	chr19:43165035-43165036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142710354	chr19:43165045-43165046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576271900	chr19:43165130-43165131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118082272	chr19:43165176-43165177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565105492	chr19:43165232-43165233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191037542	chr19:43165249-43165250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374126404	chr19:43165254-43165255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541362256	chr19:43165278-43165279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28708928	chr19:43165286-43165287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531183975	chr19:43165299-43165300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180711642	chr19:43165311-43165312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187649675	chr19:43165372-43165373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563461433	chr19:43165408-43165409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549397693	chr19:43165420-43165421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10425757	chr19:43165493-43165494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151016718	chr19:43165503-43165504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535007031	chr19:43165509-43165510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191026925	chr19:43165596-43165597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183136258	chr19:43165599-43165600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115597277	chr19:43165645-43165646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376679943	chr19:43165706-43165707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569747838	chr19:43165734-43165735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43160200-43174800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:43163000-43164800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:43164800-43165200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links