Variant report

Variant	nsv819784
Chromosome Location	chr13:53703441-53705578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH8-3	chr13:53705021-53705956	XLOC_010625
2	lnc-PCDH8-2	chr13:53704433-53704475	NONHSAT034007
3	lnc-PCDH8-4	chr13:53705020-53705956	NONHSAT034011
4	lnc-PCDH8-4	chr13:53705553-53705956	NONHSAT034013
5	lnc-PCDH8-2	chr13:53704433-53704701	XLOC_010624

Extended variants
information (count: 67 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543508431	chr13:53703467-53703468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563287549	chr13:53703534-53703535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377481907	chr13:53703550-53703551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546115803	chr13:53703570-53703571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541950475	chr13:53703585-53703586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138455056	chr13:53703598-53703599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548439733	chr13:53703633-53703634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568122677	chr13:53703669-53703670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74090338	chr13:53703670-53703671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115723109	chr13:53703747-53703748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570894853	chr13:53703773-53703774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539904121	chr13:53703820-53703821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545424972	chr13:53703821-53703822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558496474	chr13:53703881-53703882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565848060	chr13:53703888-53703889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114261324	chr13:53703989-53703990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375532769	chr13:53704021-53704022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73484977	chr13:53704027-53704028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536690749	chr13:53704028-53704029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375616908	chr13:53704060-53704061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190261556	chr13:53704137-53704138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556901720	chr13:53704176-53704177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575698102	chr13:53704216-53704217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2181389	chr13:53704246-53704247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370815849	chr13:53704260-53704261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2491126	chr13:53704297-53704298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138879356	chr13:53704317-53704318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182580257	chr13:53704357-53704358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374731806	chr13:53704384-53704385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368145627	chr13:53704404-53704405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542118903	chr13:53704412-53704413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562088427	chr13:53704416-53704417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188727980	chr13:53704437-53704438	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs573099835	chr13:53704442-53704443	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs192976898	chr13:53704447-53704448	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs564481501	chr13:53704527-53704528	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs111983544	chr13:53704543-53704544	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs398037580	chr13:53704544-53704545	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs201684279	chr13:53704545-53704546	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs185206622	chr13:53704555-53704556	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs188928256	chr13:53704706-53704707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565887245	chr13:53704711-53704712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4886202	chr13:53704738-53704739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547533914	chr13:53704778-53704779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77575874	chr13:53704780-53704781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538887254	chr13:53704805-53704806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568399301	chr13:53704814-53704815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192323780	chr13:53704826-53704827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58606612	chr13:53704859-53704860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61374297	chr13:53704863-53704864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53696600-53703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:53697800-53709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:53703400-53704000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:53703800-53704600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:53704000-53704200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:53704200-53704600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:53704600-53705800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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