Variant report

Variant	esv2762412
Chromosome Location	chr4:19317057-19339300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCORL-2	chr4:19335287-19335386	ENSG00000248238

Extended variants
information (count: 371 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190995950	chr4:19317058-19317059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139408047	chr4:19317131-19317132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553141610	chr4:19317175-19317176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181947685	chr4:19317182-19317183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529908785	chr4:19317205-19317206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186121616	chr4:19317212-19317213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540747570	chr4:19317213-19317214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534056635	chr4:19317268-19317269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552237282	chr4:19317380-19317381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73108780	chr4:19317445-19317446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369188629	chr4:19317477-19317478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560959499	chr4:19317493-19317494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556243672	chr4:19317528-19317529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74622961	chr4:19317531-19317532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190535155	chr4:19317587-19317588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115283062	chr4:19317616-19317617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377372650	chr4:19317663-19317664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546382472	chr4:19317690-19317691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564992336	chr4:19317693-19317694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183662594	chr4:19317704-19317705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544207569	chr4:19317729-19317730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562336663	chr4:19317809-19317810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530053212	chr4:19317833-19317834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541737941	chr4:19317840-19317841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188140655	chr4:19317853-19317854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79460819	chr4:19317896-19317897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201370809	chr4:19317902-19317903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116523484	chr4:19317903-19317904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191366386	chr4:19317932-19317933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563525962	chr4:19317948-19317949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73108781	chr4:19317985-19317986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182685146	chr4:19318071-19318072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568340502	chr4:19318082-19318083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539635442	chr4:19318091-19318092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554181616	chr4:19318122-19318123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566346536	chr4:19318264-19318265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532442317	chr4:19318269-19318270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13109716	chr4:19318283-19318284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371953077	chr4:19318296-19318297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540038799	chr4:19318308-19318309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13109894	chr4:19318345-19318346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558345498	chr4:19318354-19318355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146177040	chr4:19318375-19318376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139118798	chr4:19318386-19318387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201815891	chr4:19318417-19318418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574336811	chr4:19318465-19318466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375009179	chr4:19318489-19318490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565862222	chr4:19318496-19318497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1388145	chr4:19318522-19318523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73108783	chr4:19318552-19318553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19311600-19319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:19319000-19319400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:19319000-19319600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:19320400-19321600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:19320600-19321800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:19320800-19321400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:19321000-19321400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:19321000-19321600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:19321200-19321600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:19321200-19321600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:19321200-19321600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:19321400-19322000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:19321600-19322000	Enhancers	Lung	lung
14	chr4:19324800-19325200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:19325200-19327000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:19325600-19326400	Enhancers	HUVEC	blood vessel
17	chr4:19327000-19327200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:19328600-19329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:19328800-19329800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:19330600-19331800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:19330800-19331200	Enhancers	NHEK	skin
22	chr4:19330800-19331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:19330800-19331600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:19330800-19331600	Enhancers	HMEC	breast
25	chr4:19330800-19331800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:19331000-19331600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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