Variant report

Variant	esv3341537
Chromosome Location	chr8:64833447-64862817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-32K4.2.1-5	chr8:64853560-64856033	ucscGeneNc_uc003xvc_2
2	lnc-RP11-32K4.2.1-5	chr8:64859791-64860606	ucscGeneNc_uc003xvc_2
3	lnc-RP11-32K4.2.1-5	chr8:64844542-64844957	ucscGeneNc_uc003xvc_2

Extended variants
information (count: 203 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs552897709	chr8:64843016-64843017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556605781	chr8:64843047-64843048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111925637	chr8:64843075-64843076	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574649028	chr8:64843089-64843090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112665223	chr8:64843100-64843101	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142490798	chr8:64843147-64843148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575559385	chr8:64843159-64843160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111307746	chr8:64843160-64843161	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565271478	chr8:64843177-64843178	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76528366	chr8:64843234-64843235	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139137754	chr8:64843245-64843246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs192426335	chr8:64843267-64843268	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530335346	chr8:64843271-64843272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377744415	chr8:64843293-64843294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs117696181	chr8:64843298-64843299	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143139105	chr8:64843309-64843310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191345007	chr8:64844544-64844545	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs546518327	chr8:64844635-64844636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs564623020	chr8:64844650-64844651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs78060876	chr8:64844653-64844654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs6993329	chr8:64844655-64844656	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182310434	chr8:64844666-64844667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs528838366	chr8:64844753-64844754	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs142132918	chr8:64844758-64844759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs568829583	chr8:64844782-64844783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs532779723	chr8:64844783-64844784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs200926905	chr8:64844808-64844809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs551698552	chr8:64844879-64844880	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs566629628	chr8:64844903-64844904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs534026241	chr8:64844931-64844932	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs555108387	chr8:64844956-64844957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs564659451	chr8:64849819-64849820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533541399	chr8:64849852-64849853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550440707	chr8:64849861-64849862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576470175	chr8:64849884-64849885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80205857	chr8:64849923-64849924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558782605	chr8:64849940-64849941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144471466	chr8:64849942-64849943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370812711	chr8:64850008-64850009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570152773	chr8:64850143-64850144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56409360	chr8:64850157-64850158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541013901	chr8:64850261-64850262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559634184	chr8:64850272-64850273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370783565	chr8:64850281-64850282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530299940	chr8:64850285-64850286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181990882	chr8:64850317-64850318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542018804	chr8:64850331-64850332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185750350	chr8:64850378-64850379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531002035	chr8:64850395-64850396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78145602	chr8:64850419-64850420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64843000-64843400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:64849800-64850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:64850000-64851000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:64850600-64851400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:64850600-64851400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:64851000-64851400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:64851000-64852000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:64851000-64852000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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