Variant report

Variant	esv3365319
Chromosome Location	chr13:87851951-87856849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 226 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58116625	chr13:87851976-87851977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147575344	chr13:87851983-87851984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12874125	chr13:87851992-87851993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548419325	chr13:87851997-87851998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192837757	chr13:87852021-87852022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558908708	chr13:87852027-87852028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184953953	chr13:87852030-87852031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189362822	chr13:87852051-87852052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180986410	chr13:87852089-87852090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530698968	chr13:87852128-87852129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56858752	chr13:87852130-87852131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs57289088	chr13:87852161-87852162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs58701611	chr13:87852170-87852171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546415968	chr13:87852190-87852191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534308305	chr13:87852236-87852237	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371650656	chr13:87852242-87852243	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144319696	chr13:87852243-87852244	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532014991	chr13:87852254-87852255	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550828963	chr13:87852332-87852333	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569232388	chr13:87852339-87852340	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55758789	chr13:87852384-87852385	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76029319	chr13:87852423-87852424	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147816289	chr13:87852435-87852436	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534295603	chr13:87852440-87852441	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576276741	chr13:87852471-87852472	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558810989	chr13:87852530-87852531	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537887716	chr13:87852607-87852608	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577292180	chr13:87852608-87852609	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544630568	chr13:87852651-87852652	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35419398	chr13:87852652-87852653	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140299192	chr13:87852668-87852669	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185365417	chr13:87852702-87852703	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575610328	chr13:87852716-87852717	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74493115	chr13:87852733-87852734	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371373550	chr13:87852739-87852740	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150365290	chr13:87852760-87852761	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541912432	chr13:87852850-87852851	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528305507	chr13:87852880-87852881	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540309753	chr13:87852894-87852895	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564655853	chr13:87852925-87852926	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189353667	chr13:87852942-87852943	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574834334	chr13:87852946-87852947	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550164123	chr13:87852972-87852973	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73560614	chr13:87852998-87852999	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181931802	chr13:87853017-87853018	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548647507	chr13:87853061-87853062	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567031734	chr13:87853069-87853070	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73560615	chr13:87853075-87853076	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552668221	chr13:87853102-87853103	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570977531	chr13:87853109-87853110	Active TSS 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87848400-87852200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:87848400-87859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:87852200-87852400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:87852400-87853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:87853200-87853800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:87853800-87854400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:87854400-87858400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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