Variant report

Variant	esv1833067
Chromosome Location	chr4:46919749-46929104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COX7B2-1	chr4:46921732-46924411	NONHSAT096245

Extended variants
information (count: 218 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192856883	chr4:46920400-46920401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150812637	chr4:46920414-46920415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576840558	chr4:46920435-46920436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543971651	chr4:46920440-46920441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555700716	chr4:46920489-46920490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567131853	chr4:46920527-46920528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573643409	chr4:46920540-46920541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575804220	chr4:46921733-46921734	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs562961783	chr4:46921826-46921827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs184689725	chr4:46921882-46921883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs540151558	chr4:46921914-46921915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs542560820	chr4:46921934-46921935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs544543481	chr4:46921939-46921940	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs7691100	chr4:46921954-46921955	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374235440	chr4:46921955-46921956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs528262463	chr4:46922033-46922034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs73813735	chr4:46922040-46922041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576942280	chr4:46922042-46922043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566154516	chr4:46922090-46922091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs533484836	chr4:46922096-46922097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs7678338	chr4:46922107-46922108	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569955813	chr4:46922220-46922221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537502213	chr4:46922256-46922257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs190340812	chr4:46922279-46922280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs192867385	chr4:46922318-46922319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562534986	chr4:46922327-46922328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs371474466	chr4:46922371-46922372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs34077066	chr4:46922396-46922397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs149815272	chr4:46922409-46922410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs374410489	chr4:46922421-46922422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs553172425	chr4:46922464-46922465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs2351169	chr4:46922473-46922474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs538355368	chr4:46922567-46922568	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs556491458	chr4:46922574-46922575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs372109634	chr4:46922624-46922625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs376772208	chr4:46922628-46922629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs542648075	chr4:46922629-46922630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs561006890	chr4:46922666-46922667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs573117460	chr4:46922684-46922685	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs10033500	chr4:46922688-46922689	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541802840	chr4:46922689-46922690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs565089436	chr4:46922697-46922698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs185132065	chr4:46922713-46922714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551903108	chr4:46922801-46922802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs563849026	chr4:46922886-46922887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs529301637	chr4:46922904-46922905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs145824412	chr4:46922924-46922925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs560188913	chr4:46922930-46922931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs9291296	chr4:46922950-46922951	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34182278	chr4:46922957-46922958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46920400-46920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:46926600-46932800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:46928600-46929800	Enhancers	Fetal Heart	heart

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