Variant report

Variant	nsv947553
Chromosome Location	chr1:174548435-174554898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
2	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:

Extended variants
information (count: 208 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188396553	chr1:174548457-174548458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368919695	chr1:174548476-174548477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544491987	chr1:174548551-174548552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192229496	chr1:174548603-174548604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545170903	chr1:174548612-174548613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184662348	chr1:174548613-174548614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142567960	chr1:174548616-174548617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577098550	chr1:174548668-174548669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189278961	chr1:174548682-174548683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145988767	chr1:174548705-174548706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548394035	chr1:174548707-174548708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562993285	chr1:174548864-174548865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530867270	chr1:174548865-174548866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550890815	chr1:174548877-174548878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570718513	chr1:174548898-174548899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539835369	chr1:174548907-174548908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546648782	chr1:174548932-174548933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192325596	chr1:174548980-174548981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184708470	chr1:174549002-174549003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555579888	chr1:174549028-174549029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575426980	chr1:174549048-174549049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114772635	chr1:174549050-174549051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539686106	chr1:174549051-174549052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372802710	chr1:174549056-174549057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188841039	chr1:174549101-174549102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545808173	chr1:174549151-174549152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559066513	chr1:174549189-174549190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142639201	chr1:174549230-174549231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369290155	chr1:174549231-174549232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572929209	chr1:174549241-174549242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368990806	chr1:174549296-174549297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139874717	chr1:174549309-174549310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143242153	chr1:174549310-174549311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530728281	chr1:174549316-174549317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550760522	chr1:174549425-174549426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564393056	chr1:174549433-174549434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182052881	chr1:174549452-174549453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186304451	chr1:174549482-174549483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151151684	chr1:174549483-174549484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535990289	chr1:174549518-174549519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549065095	chr1:174549564-174549565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536836224	chr1:174549612-174549613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568972035	chr1:174549630-174549631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538068112	chr1:174549698-174549699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557904730	chr1:174549724-174549725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149863473	chr1:174549754-174549755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376924154	chr1:174549756-174549757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539957818	chr1:174549757-174549758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572747312	chr1:174549782-174549783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541800784	chr1:174549788-174549789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174545200-174555800	Weak transcription	Psoas Muscle	Psoas
2	chr1:174545400-174550200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:174546000-174573000	Weak transcription	Left Ventricle	heart
4	chr1:174546200-174556800	Weak transcription	Primary B cells from cord blood	blood
5	chr1:174546400-174550000	Weak transcription	Fetal Heart	heart
6	chr1:174547200-174554400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:174547400-174550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:174550000-174550200	Enhancers	Fetal Heart	heart
9	chr1:174552200-174554400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:174552800-174554600	Weak transcription	GM12878-XiMat	blood
11	chr1:174553000-174553800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:174553400-174554800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:174553600-174570200	Weak transcription	Gastric	stomach
14	chr1:174553800-174555000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:174554400-174554800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:174554400-174555000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr1:174554600-174555000	Strong transcription	GM12878-XiMat	blood
18	chr1:174554800-174555000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr1:174554800-174555400	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links