Variant report

Variant	esv3352546
Chromosome Location	chr13:80200623-80201077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4885648	chr13:80200682-80200683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541540748	chr13:80200710-80200711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77939173	chr13:80200736-80200737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547720406	chr13:80200752-80200753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559740805	chr13:80200768-80200769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374855186	chr13:80200779-80200780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555431476	chr13:80200787-80200788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369267083	chr13:80200788-80200789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577602976	chr13:80200799-80200800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537895874	chr13:80200801-80200802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558268463	chr13:80200819-80200820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578163990	chr13:80200830-80200831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545993398	chr13:80200835-80200836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553218454	chr13:80200850-80200851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573012357	chr13:80200854-80200855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189498579	chr13:80200888-80200889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561880319	chr13:80200889-80200890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9565512	chr13:80200895-80200896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs139550652	chr13:80200990-80200991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181805553	chr13:80201024-80201025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149750706	chr13:80201043-80201044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546751783	chr13:80201044-80201045	Weak transcription Enhancers	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
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
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	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	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
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
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
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80195600-80202200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80198600-80203800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:80198600-80205200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:80199400-80204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80199600-80202200	Enhancers	HMEC	breast
6	chr13:80200400-80201600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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