Variant report

Variant	esv2760282
Chromosome Location	chr13:67336805-67339314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386771881	chr13:67336805-67336806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1442011	chr13:67336806-67336807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142709461	chr13:67336838-67336839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531155777	chr13:67336842-67336843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186024256	chr13:67336854-67336855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566063502	chr13:67336861-67336862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533933010	chr13:67336919-67336920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567985024	chr13:67336930-67336931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114403258	chr13:67336933-67336934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559055635	chr13:67336959-67336960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117974624	chr13:67337010-67337011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539897285	chr13:67337030-67337031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558192924	chr13:67337032-67337033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1442010	chr13:67337049-67337050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147369158	chr13:67337061-67337062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190095694	chr13:67337064-67337065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183403044	chr13:67337065-67337066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556964116	chr13:67337075-67337076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78658732	chr13:67337107-67337108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75399034	chr13:67337108-67337109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186403860	chr13:67337145-67337146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544827707	chr13:67337147-67337148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200894070	chr13:67337152-67337153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559350765	chr13:67337168-67337169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373170120	chr13:67337235-67337236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs118116997	chr13:67337255-67337256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71782312	chr13:67337298-67337299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117047886	chr13:67337315-67337316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530997832	chr13:67337328-67337329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113087592	chr13:67337345-67337346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190917349	chr13:67337371-67337372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1866983	chr13:67337413-67337414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs567861284	chr13:67337414-67337415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541282934	chr13:67337458-67337459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373341483	chr13:67337490-67337491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182582501	chr13:67337521-67337522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528134106	chr13:67337670-67337671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566495746	chr13:67337759-67337760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188887537	chr13:67337787-67337788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139541047	chr13:67337797-67337798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191186558	chr13:67337848-67337849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536847026	chr13:67337877-67337878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143553784	chr13:67337896-67337897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573890534	chr13:67337898-67337899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376279702	chr13:67337906-67337907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546254341	chr13:67337949-67337950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536515238	chr13:67337950-67337951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73210208	chr13:67337951-67337952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114835181	chr13:67337980-67337981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112974062	chr13:67338017-67338018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67336400-67339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr13:67336600-67339200	Weak transcription	Aorta	Aorta
3	chr13:67336600-67343400	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:67339000-67339400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:67339000-67339400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr13:67339200-67339400	Enhancers	Aorta	Aorta
7	chr13:67339200-67339600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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