Variant report

Variant	esv3333708
Chromosome Location	chr13:66429951-66433049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-6	chr13:66430425-66430559	NONHSAT034195

Extended variants
information (count: 110 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545146590	chr13:66430008-66430009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371241211	chr13:66430042-66430043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73502532	chr13:66430052-66430053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543747760	chr13:66430062-66430063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563622766	chr13:66430072-66430073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563464779	chr13:66430081-66430082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531172548	chr13:66430102-66430103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17078352	chr13:66430114-66430115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542834532	chr13:66430126-66430127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561639537	chr13:66430128-66430129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549203555	chr13:66430138-66430139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373303550	chr13:66430146-66430147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550676123	chr13:66430206-66430207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138967866	chr13:66430222-66430223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201905312	chr13:66430241-66430242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532578775	chr13:66430242-66430243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551472144	chr13:66430250-66430251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571658742	chr13:66430253-66430254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537333089	chr13:66430420-66430421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9571497	chr13:66430452-66430453	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547417057	chr13:66430475-66430476	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs140691687	chr13:66430488-66430489	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs74531660	chr13:66430490-66430491	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188915569	chr13:66430503-66430504	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs571792596	chr13:66430584-66430585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532648752	chr13:66430624-66430625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557466163	chr13:66430633-66430634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577608789	chr13:66430685-66430686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181660859	chr13:66430720-66430721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4142582	chr13:66430722-66430723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563530161	chr13:66430730-66430731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529229147	chr13:66430736-66430737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542812629	chr13:66430748-66430749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559623801	chr13:66430778-66430779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186190267	chr13:66430779-66430780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551889539	chr13:66430782-66430783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34604279	chr13:66430817-66430818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565724726	chr13:66430881-66430882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565242868	chr13:66430902-66430903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530885244	chr13:66430956-66430957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145893522	chr13:66430963-66430964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73502537	chr13:66430986-66430987	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111577281	chr13:66431003-66431004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191429550	chr13:66431016-66431017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114600566	chr13:66431034-66431035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73502540	chr13:66431038-66431039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532946086	chr13:66431108-66431109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551488908	chr13:66431123-66431124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534410437	chr13:66431203-66431204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557794709	chr13:66431262-66431263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66423800-66432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:66429000-66431600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:66429600-66431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:66429600-66431000	Enhancers	Fetal Lung	lung
5	chr13:66430200-66431000	Enhancers	NHDF-Ad	bronchial
6	chr13:66430400-66430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:66430400-66430800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:66430400-66431200	Enhancers	Osteobl	bone
9	chr13:66430600-66431200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:66431000-66432000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:66431600-66432000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:66432000-66432200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:66432000-66432400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:66432000-66432600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:66432600-66441000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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