Variant report

Variant	nsv961764
Chromosome Location	chr2:77216571-77228053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL19-4	chr2:77216947-77217052	ENSG00000234653.1
2	lnc-MRPL19-4	chr2:77216947-77217052	NR_110284

Extended variants
information (count: 526 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114284745	chr2:77216598-77216599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555852720	chr2:77216623-77216624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115173863	chr2:77216657-77216658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142166295	chr2:77216675-77216676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553397132	chr2:77216689-77216690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536730390	chr2:77216711-77216712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544269450	chr2:77216748-77216749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147704322	chr2:77216761-77216762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150225913	chr2:77216809-77216810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111458475	chr2:77216812-77216813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3057993	chr2:77216814-77216815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386647556	chr2:77216815-77216816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184329054	chr2:77216826-77216827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562224569	chr2:77216887-77216888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529512952	chr2:77216924-77216925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140774858	chr2:77216978-77216979	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs555464744	chr2:77216983-77216984	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs77595770	chr2:77217015-77217016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs562983734	chr2:77217081-77217082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113541427	chr2:77217114-77217115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144622401	chr2:77217160-77217161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114814475	chr2:77217234-77217235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562579046	chr2:77217247-77217248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34353118	chr2:77217251-77217252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72823154	chr2:77217254-77217255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs58936967	chr2:77217266-77217267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567411456	chr2:77217279-77217280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182326432	chr2:77217289-77217290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10520176	chr2:77217310-77217311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571107229	chr2:77217311-77217312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185425747	chr2:77217339-77217340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13012574	chr2:77217348-77217349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147869531	chr2:77217357-77217358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572035789	chr2:77217358-77217359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542231441	chr2:77217367-77217368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577964405	chr2:77217371-77217372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556041946	chr2:77217429-77217430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545368429	chr2:77217446-77217447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190722964	chr2:77217488-77217489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369337317	chr2:77217496-77217497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563125996	chr2:77217507-77217508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533558813	chr2:77217508-77217509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545544070	chr2:77217518-77217519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1921624	chr2:77217530-77217531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180685739	chr2:77217545-77217546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549065269	chr2:77217547-77217548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11889335	chr2:77217561-77217562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13013056	chr2:77217602-77217603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567553068	chr2:77217618-77217619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531544822	chr2:77217635-77217636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77214000-77220400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:77214200-77217400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:77220800-77221200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:77222800-77224400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:77224200-77224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:77224200-77226600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:77224400-77225000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:77224400-77226800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:77224600-77224800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:77224600-77225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:77225000-77226000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:77225000-77231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:77225400-77226000	Enhancers	HUVEC	blood vessel
14	chr2:77225600-77226400	Enhancers	Hela-S3	cervix
15	chr2:77226600-77227800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:77226800-77228600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:77227800-77229200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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