Variant report

Variant	esv3330452
Chromosome Location	chr13:64084000-64114816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 415 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9564070	chr13:64086204-64086205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532496580	chr13:64086209-64086210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58456442	chr13:64086256-64086257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116436267	chr13:64086263-64086264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536224543	chr13:64086267-64086268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs207473893	chr13:64086313-64086314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9570930	chr13:64086320-64086321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114242837	chr13:64086325-64086326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534894540	chr13:64086354-64086355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553102526	chr13:64086445-64086446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577811512	chr13:64086464-64086465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151095113	chr13:64086487-64086488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9528649	chr13:64086510-64086511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200817708	chr13:64086531-64086532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192052415	chr13:64086545-64086546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542979350	chr13:64086564-64086565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561241036	chr13:64086565-64086566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573242342	chr13:64086574-64086575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9528650	chr13:64086575-64086576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144153965	chr13:64086581-64086582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534724052	chr13:64088015-64088016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200596209	chr13:64088034-64088035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60409923	chr13:64088037-64088038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117540313	chr13:64088085-64088086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564315361	chr13:64088099-64088100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574535130	chr13:64088103-64088104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576324889	chr13:64088113-64088114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143418690	chr13:64088115-64088116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35409792	chr13:64088116-64088117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527310563	chr13:64088122-64088123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200037422	chr13:64088200-64088201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545357795	chr13:64088245-64088246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563847954	chr13:64088284-64088285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181647008	chr13:64088319-64088320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145558218	chr13:64088365-64088366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148858459	chr13:64088501-64088502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11838617	chr13:64088509-64088510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548887384	chr13:64088516-64088517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567137785	chr13:64088553-64088554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143484399	chr13:64088623-64088624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117344320	chr13:64088642-64088643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150935865	chr13:64088694-64088695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141921744	chr13:64088720-64088721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146905554	chr13:64088724-64088725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556364538	chr13:64088735-64088736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186655989	chr13:64088740-64088741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs626742	chr13:64088820-64088821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs17356254	chr13:64088848-64088849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571967982	chr13:64088849-64088850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114873009	chr13:64088891-64088892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64086200-64086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:64088000-64088200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:64088200-64089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:64089200-64089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:64091200-64091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:64091400-64091800	Enhancers	Osteobl	bone
7	chr13:64091400-64092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:64091400-64092000	Enhancers	Fetal Lung	lung
9	chr13:64091600-64091800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:64092200-64092800	Enhancers	HUVEC	blood vessel
11	chr13:64098200-64098400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:64098600-64099000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:64100000-64101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:64101600-64101800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:64101600-64101800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:64101800-64105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:64105200-64105400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:64112600-64114200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:64114200-64117200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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