Variant report

Variant	nsv977370
Chromosome Location	chr13:63494324-63516765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-20	chr13:63506481-63506671	NONHSAT034156

Extended variants
information (count: 400 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:400 , 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	rs568844704	chr13:63494414-63494415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184800345	chr13:63494464-63494465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572112718	chr13:63494466-63494467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77834418	chr13:63494482-63494483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374416048	chr13:63494497-63494498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565188640	chr13:63494502-63494503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78404993	chr13:63494560-63494561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371501701	chr13:63494561-63494562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188444327	chr13:63494563-63494564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532768317	chr13:63494571-63494572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550889531	chr13:63494579-63494580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530345599	chr13:63494603-63494604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78864056	chr13:63494623-63494624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139244701	chr13:63494676-63494677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527832980	chr13:63494687-63494688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552295337	chr13:63494689-63494690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536560765	chr13:63494774-63494775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570552720	chr13:63494839-63494840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80031526	chr13:63494844-63494845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73200884	chr13:63494862-63494863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568034471	chr13:63494963-63494964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535758675	chr13:63494986-63494987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139805889	chr13:63495029-63495030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145300772	chr13:63495046-63495047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539709852	chr13:63495063-63495064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539255718	chr13:63495070-63495071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111998287	chr13:63495216-63495217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576913480	chr13:63495321-63495322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544231095	chr13:63495348-63495349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148670889	chr13:63495379-63495380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200365892	chr13:63495420-63495421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34991726	chr13:63495421-63495422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369916773	chr13:63495424-63495425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55819247	chr13:63495425-63495426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574449632	chr13:63495458-63495459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542510769	chr13:63495531-63495532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2139849	chr13:63495540-63495541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74406181	chr13:63495552-63495553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80224956	chr13:63495599-63495600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370550517	chr13:63495643-63495644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564196751	chr13:63495778-63495779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149041971	chr13:63495781-63495782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578012138	chr13:63495843-63495844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73200886	chr13:63495853-63495854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566995879	chr13:63495854-63495855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398023078	chr13:63495857-63495858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560394886	chr13:63495877-63495878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142097118	chr13:63495933-63495934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184729921	chr13:63495991-63495992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528837556	chr13:63496136-63496137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63493800-63494800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:63493800-63495600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:63494000-63502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:63494600-63495000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:63494600-63495600	Enhancers	NHDF-Ad	bronchial
6	chr13:63502200-63502600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:63502600-63502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:63503600-63504000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:63505200-63505600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:63505400-63505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:63505400-63505800	Enhancers	NHDF-Ad	bronchial
12	chr13:63505400-63508200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:63505600-63506200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:63505600-63506200	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:63505600-63507000	Enhancers	Dnd41	blood
16	chr13:63505800-63506000	Flanking Active TSS	NHDF-Ad	bronchial
17	chr13:63505800-63506200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:63506000-63506400	Enhancers	Colon Smooth Muscle	Colon
19	chr13:63506000-63506400	Active TSS	NHDF-Ad	bronchial
20	chr13:63506200-63507000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:63507000-63507600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:63507000-63508000	Weak transcription	Dnd41	blood
23	chr13:63507600-63508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:63508000-63508200	Enhancers	Dnd41	blood

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