Variant report

Variant	esv3518953
Chromosome Location	chr13:76608702-76612872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559570714	chr13:76608722-76608723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7990448	chr13:76608729-76608730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541984095	chr13:76608745-76608746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1841664	chr13:76608774-76608775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186966594	chr13:76608783-76608784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191390870	chr13:76608790-76608791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528047352	chr13:76608811-76608812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528093246	chr13:76608862-76608863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546921634	chr13:76608864-76608865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181314734	chr13:76608886-76608887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535665752	chr13:76608932-76608933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185968654	chr13:76608936-76608937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568940582	chr13:76608958-76608959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7990535	chr13:76608964-76608965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558778300	chr13:76608965-76608966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113515321	chr13:76608993-76608994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148735365	chr13:76609020-76609021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550739982	chr13:76609033-76609034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34423645	chr13:76609034-76609035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553266524	chr13:76609053-76609054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7991027	chr13:76609066-76609067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9573723	chr13:76609073-76609074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563942954	chr13:76609115-76609116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575741575	chr13:76609144-76609145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182418652	chr13:76609153-76609154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563981011	chr13:76609177-76609178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10543750	chr13:76609198-76609199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370166653	chr13:76609202-76609203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528105598	chr13:76609310-76609311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56198072	chr13:76609313-76609314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561642741	chr13:76609315-76609316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550286804	chr13:76609399-76609400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575466077	chr13:76609402-76609403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77144726	chr13:76609442-76609443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529815758	chr13:76609519-76609520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375542564	chr13:76609550-76609551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142285535	chr13:76609625-76609626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546793712	chr13:76609643-76609644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566602467	chr13:76609715-76609716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187805929	chr13:76609716-76609717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146295615	chr13:76609718-76609719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552961564	chr13:76609788-76609789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115813158	chr13:76609878-76609879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568098272	chr13:76609920-76609921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577669649	chr13:76609956-76609957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139777989	chr13:76609976-76609977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191206753	chr13:76609981-76609982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17065508	chr13:76609997-76609998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146620554	chr13:76609998-76609999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79838484	chr13:76610042-76610043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
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
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76605000-76609600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76605400-76609600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:76608000-76612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:76608600-76609000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:76609000-76610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:76609600-76610200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:76609600-76611000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:76609600-76613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:76609800-76610800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:76609800-76610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:76609800-76611000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:76610400-76610600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:76610400-76611400	Enhancers	K562	blood
14	chr13:76610400-76611600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:76610600-76611400	Enhancers	Brain Anterior Caudate	brain
16	chr13:76610600-76611600	Enhancers	Fetal Lung	lung
17	chr13:76610600-76611800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:76610600-76612400	Enhancers	Fetal Thymus	thymus
19	chr13:76611200-76612000	Enhancers	Thymus	Thymus
20	chr13:76611400-76613000	Weak transcription	Brain Anterior Caudate	brain
21	chr13:76611600-76612200	Weak transcription	Fetal Lung	lung
22	chr13:76611800-76613200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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