Variant report

Variant	nsv961765
Chromosome Location	chr2:78326759-78344079
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	chr2:78326493..78328202-chr2:78333273..78335963,2	K562	blood:
2	chr2:78326493..78328202-chr2:78333273..78335963,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-3	chr2:78339185-78339226	XLOC_001543

Extended variants
information (count: 407 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539301913	chr2:78326759-78326760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61486413	chr2:78326782-78326783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145273780	chr2:78330231-78330232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527302457	chr2:78330285-78330286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566268715	chr2:78330293-78330294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386647637	chr2:78330296-78330297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6547185	chr2:78330312-78330313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536190095	chr2:78330335-78330336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74261147	chr2:78330344-78330345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535840723	chr2:78330369-78330370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556148709	chr2:78330427-78330428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537223738	chr2:78330491-78330492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149077781	chr2:78330494-78330495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538553698	chr2:78330495-78330496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558461967	chr2:78330525-78330526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143729340	chr2:78330555-78330556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540852573	chr2:78330564-78330565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185134804	chr2:78330570-78330571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190666241	chr2:78330601-78330602	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574891374	chr2:78330609-78330610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543423245	chr2:78330634-78330635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563712082	chr2:78330640-78330641	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532442980	chr2:78330643-78330644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574170673	chr2:78330672-78330673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs72923605	chr2:78330704-78330705	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560117671	chr2:78330719-78330720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541481660	chr2:78330725-78330726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528683740	chr2:78330769-78330770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559437796	chr2:78330771-78330772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140963086	chr2:78330787-78330788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567223722	chr2:78330805-78330806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529802467	chr2:78330817-78330818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549469450	chr2:78330851-78330852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144979769	chr2:78330858-78330859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183286439	chr2:78330875-78330876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563928628	chr2:78330886-78330887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138790521	chr2:78330890-78330891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186512909	chr2:78330917-78330918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200612409	chr2:78330926-78330927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201826267	chr2:78330941-78330942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs367906996	chr2:78331033-78331034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534476175	chr2:78331047-78331048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191411240	chr2:78331053-78331054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79994729	chr2:78331059-78331060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543891282	chr2:78331064-78331065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531038839	chr2:78331095-78331096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75660117	chr2:78331100-78331101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577148140	chr2:78331190-78331191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546254045	chr2:78331289-78331290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78186458	chr2:78331305-78331306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78326200-78326800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:78330200-78332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:78330600-78331600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:78331000-78331600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:78331600-78332800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:78332800-78333600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:78335000-78337600	Enhancers	Liver	Liver
8	chr2:78336000-78336600	Active TSS	Fetal Heart	heart
9	chr2:78336200-78337200	Enhancers	HepG2	liver
10	chr2:78337200-78339000	Weak transcription	HepG2	liver
11	chr2:78339000-78339400	Strong transcription	HepG2	liver
12	chr2:78339400-78341200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links