Variant report

Variant	esv3375626
Chromosome Location	chr2:76800346-76822432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL19-18	chr2:76814741-76814827	NONHSAT071820
2	lnc-MRPL19-17	chr2:76802439-76802582	NONHSAT071819
3	lnc-MRPL19-17	chr2:76805608-76805913	NONHSAT071819
4	lnc-MRPL19-18	chr2:76806776-76806856	NONHSAT071820
5	lnc-MRPL19-18	chr2:76807165-76807212	NONHSAT071820
6	lnc-MRPL19-18	chr2:76802723-76802739	NONHSAT071820

Extended variants
information (count: 1225 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138529940	chr2:76800351-76800352	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149621976	chr2:76800360-76800361	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530405689	chr2:76800443-76800444	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142032472	chr2:76800451-76800452	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373237454	chr2:76800455-76800456	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558434036	chr2:76800478-76800479	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573527985	chr2:76800570-76800571	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113333204	chr2:76800571-76800572	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144323425	chr2:76800633-76800634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574215653	chr2:76800652-76800653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112118426	chr2:76800727-76800728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112912421	chr2:76800736-76800737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577779681	chr2:76800756-76800757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544830481	chr2:76800758-76800759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146183925	chr2:76800788-76800789	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139144778	chr2:76800828-76800829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548604638	chr2:76800831-76800832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10184604	chr2:76800840-76800841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535745901	chr2:76800855-76800856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553325603	chr2:76800856-76800857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542731446	chr2:76800864-76800865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549836366	chr2:76800867-76800868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571211149	chr2:76800911-76800912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10184876	chr2:76800921-76800922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533574599	chr2:76800937-76800938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10197282	chr2:76800941-76800942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567185950	chr2:76800942-76800943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534477550	chr2:76800950-76800951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555846641	chr2:76800960-76800961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567656082	chr2:76800961-76800962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539282652	chr2:76800981-76800982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377170886	chr2:76800996-76800997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556621587	chr2:76801044-76801045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578014725	chr2:76801097-76801098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10210664	chr2:76801137-76801138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112194512	chr2:76801142-76801143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553537908	chr2:76801144-76801145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572039229	chr2:76801145-76801146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374786252	chr2:76801150-76801151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62171665	chr2:76801151-76801152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560587569	chr2:76801189-76801190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368180379	chr2:76801196-76801197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531343084	chr2:76801233-76801234	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543004338	chr2:76801263-76801264	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186173176	chr2:76801275-76801276	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543401473	chr2:76801299-76801300	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565013529	chr2:76801315-76801316	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145876698	chr2:76801324-76801325	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552036015	chr2:76801333-76801334	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148584929	chr2:76801337-76801338	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Autism	20531469	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76776000-76807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:76796800-76800600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:76797000-76800800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:76798800-76800600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:76799800-76800600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:76800000-76800600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:76800000-76800800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:76800200-76800400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:76800200-76800400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:76800200-76800400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:76800400-76800600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:76800400-76800600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:76800400-76800600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:76800600-76800800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:76800600-76801200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:76800600-76801600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:76800600-76802000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:76800600-76804200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:76800800-76801000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:76800800-76801200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:76800800-76801800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:76801000-76801400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:76801200-76801400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:76801200-76802000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:76801400-76801600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:76801400-76802000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:76801600-76803200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:76801600-76805200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:76801800-76802000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:76802000-76802800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:76802000-76802800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:76802000-76805400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:76802000-76807000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:76802800-76803000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr2:76802800-76811200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:76803000-76803600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr2:76803200-76803400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr2:76803200-76804200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:76803400-76807000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr2:76803400-76810600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:76803600-76804200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:76804200-76804400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:76804200-76805200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:76804200-76807000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:76804400-76805200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:76805200-76805400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:76805200-76806600	Active TSS	H1 Cell Line	embryonic stem cell
48	chr2:76805200-76807000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:76805200-76807200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:76805400-76805800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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