Variant report

Variant	nsv966969
Chromosome Location	chr3:162741326-162742278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:162742000-162742150	HRPEpiC	eye:	n/a	n/a
2	POLR2A	chr3:162741615-162741616	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000241168	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376746610	chr3:162741353-162741354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2046697	chr3:162741363-162741364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112321325	chr3:162741451-162741452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2046696	chr3:162741452-162741453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537396098	chr3:162741457-162741458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148428443	chr3:162741479-162741480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570694096	chr3:162741491-162741492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376580443	chr3:162741537-162741538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539085973	chr3:162741562-162741563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552914110	chr3:162741582-162741583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7630244	chr3:162741643-162741644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373584188	chr3:162741648-162741649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145135960	chr3:162741655-162741656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79333176	chr3:162741663-162741664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7625906	chr3:162741691-162741692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182884402	chr3:162741696-162741697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187839222	chr3:162741700-162741701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533647354	chr3:162741704-162741705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10470485	chr3:162741705-162741706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397708149	chr3:162741712-162741713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147604457	chr3:162741718-162741719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560096898	chr3:162741735-162741736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74635276	chr3:162741743-162741744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549058950	chr3:162741748-162741749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142186552	chr3:162741749-162741750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7633057	chr3:162741755-162741756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9290195	chr3:162741786-162741787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570684867	chr3:162741803-162741804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539706150	chr3:162741869-162741870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546660565	chr3:162741879-162741880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192955676	chr3:162741923-162741924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9290196	chr3:162741926-162741927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34920622	chr3:162741937-162741938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555510611	chr3:162742013-162742014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575375906	chr3:162742015-162742016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs184257759	chr3:162742017-162742018	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558308671	chr3:162742043-162742044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs578211001	chr3:162742080-162742081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs114165697	chr3:162742094-162742095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560158075	chr3:162742097-162742098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs7630728	chr3:162742143-162742144	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542580756	chr3:162742145-162742146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs146104132	chr3:162742165-162742166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7619891	chr3:162742196-162742197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571538002	chr3:162742245-162742246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189072821	chr3:162742249-162742250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151217135	chr3:162742255-162742256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533123322	chr3:162742274-162742275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162735400-162745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162741000-162765600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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