Variant report

Variant	esv3514530
Chromosome Location	chr13:87831150-87838246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 263 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548426124	chr13:87831156-87831157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183390340	chr13:87831163-87831164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74103207	chr13:87831165-87831166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550655331	chr13:87831191-87831192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569049410	chr13:87831201-87831202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536229101	chr13:87831251-87831252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114869261	chr13:87831294-87831295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531479267	chr13:87831323-87831324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567419632	chr13:87831350-87831351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567509517	chr13:87831382-87831383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112182349	chr13:87831411-87831412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534926705	chr13:87831433-87831434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552845871	chr13:87831477-87831478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553612506	chr13:87831484-87831485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543102266	chr13:87831569-87831570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375759355	chr13:87831593-87831594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557079249	chr13:87831640-87831641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528823860	chr13:87831744-87831745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149075142	chr13:87831750-87831751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542618716	chr13:87831758-87831759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560957415	chr13:87831759-87831760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187391313	chr13:87831760-87831761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548493383	chr13:87831794-87831795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142161377	chr13:87831805-87831806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190810497	chr13:87831806-87831807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532556828	chr13:87831833-87831834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182670042	chr13:87831875-87831876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151208770	chr13:87831882-87831883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140384446	chr13:87831924-87831925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145599463	chr13:87831942-87831943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566862034	chr13:87831948-87831949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533985605	chr13:87831973-87831974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188094781	chr13:87832009-87832010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192671027	chr13:87832023-87832024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368239342	chr13:87832031-87832032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114133865	chr13:87832038-87832039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538817155	chr13:87832048-87832049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371399369	chr13:87832072-87832073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112903053	chr13:87832080-87832081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374365173	chr13:87832094-87832095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576353613	chr13:87832096-87832097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4771906	chr13:87832103-87832104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563630324	chr13:87832111-87832112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370718295	chr13:87832117-87832118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536366289	chr13:87832135-87832136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554218308	chr13:87832146-87832147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572791902	chr13:87832176-87832177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539885896	chr13:87832179-87832180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565555466	chr13:87832181-87832182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141220439	chr13:87832183-87832184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87829800-87834400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:87833600-87833800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:87833800-87834000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:87834000-87836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:87834400-87834600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:87834600-87834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:87836600-87837000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:87837800-87838400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:87838000-87839000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:87838000-87839800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:87838200-87838400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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