Variant report

Variant	esv2761787
Chromosome Location	chr13:47900036-47908763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 310 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545981134	chr13:47900047-47900048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7988354	chr13:47900049-47900050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544126247	chr13:47900082-47900083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562793628	chr13:47900161-47900162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568504683	chr13:47900183-47900184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533301739	chr13:47900270-47900271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77554792	chr13:47900283-47900284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545171700	chr13:47900317-47900318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564947417	chr13:47900367-47900368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9591032	chr13:47900420-47900421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543930592	chr13:47900440-47900441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367576242	chr13:47900443-47900444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562056260	chr13:47900542-47900543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74984322	chr13:47900544-47900545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568506103	chr13:47900602-47900603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370438307	chr13:47900607-47900608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187240130	chr13:47900646-47900647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3991105	chr13:47900651-47900652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191697847	chr13:47900695-47900696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73180332	chr13:47900749-47900750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566138821	chr13:47900772-47900773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533594289	chr13:47900791-47900792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183879792	chr13:47900801-47900802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555438678	chr13:47900833-47900834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189520079	chr13:47900869-47900870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192430003	chr13:47900884-47900885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375261892	chr13:47900907-47900908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371672811	chr13:47900989-47900990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374531184	chr13:47900990-47900991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376970956	chr13:47900991-47900992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5803393	chr13:47900992-47900993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148829556	chr13:47901021-47901022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57158963	chr13:47901022-47901023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530353214	chr13:47901029-47901030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550045270	chr13:47901044-47901045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184458732	chr13:47901054-47901055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565989939	chr13:47901064-47901065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190541981	chr13:47901124-47901125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181796896	chr13:47901163-47901164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564434573	chr13:47901181-47901182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186097608	chr13:47901211-47901212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540308644	chr13:47901223-47901224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188954421	chr13:47901279-47901280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529396033	chr13:47901314-47901315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9562727	chr13:47901324-47901325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs79961821	chr13:47901383-47901384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4245343	chr13:47901459-47901460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551659594	chr13:47901473-47901474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552391758	chr13:47901502-47901503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566868733	chr13:47901505-47901506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Lung cancer	20668451	CNVD
Cancer	21278246	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21390271	CNVD
Glioblastoma multiforme	22286061	CNVD
infertile	18676362	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47899800-47901000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:47899800-47901400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:47900200-47901000	Enhancers	NHDF-Ad	bronchial
4	chr13:47900800-47904400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:47901000-47901600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:47901000-47906200	Weak transcription	NHDF-Ad	bronchial
7	chr13:47901200-47903000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:47901400-47901600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:47901600-47901800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:47901600-47901800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:47901800-47902000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:47901800-47905400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:47902000-47902800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:47902800-47904600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:47903000-47904200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:47904200-47904600	Enhancers	Aorta	Aorta
17	chr13:47904200-47907800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:47904600-47905000	Weak transcription	Aorta	Aorta
19	chr13:47904600-47910200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:47905000-47905200	Enhancers	Aorta	Aorta
21	chr13:47905200-47906600	Weak transcription	Aorta	Aorta
22	chr13:47905400-47908000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:47905600-47909200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:47906200-47906800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:47906200-47909200	Enhancers	NHDF-Ad	bronchial
26	chr13:47906400-47906600	Enhancers	Osteobl	bone
27	chr13:47906600-47906800	Enhancers	Aorta	Aorta
28	chr13:47906600-47908400	Weak transcription	Osteobl	bone
29	chr13:47906800-47908200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:47907600-47908400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:47907800-47908000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:47908000-47908200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:47908000-47908200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:47908000-47908800	Enhancers	NH-A	brain
35	chr13:47908200-47908400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:47908200-47908400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:47908200-47908800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:47908400-47908600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:47908400-47908600	Enhancers	HSMMtube	muscle
40	chr13:47908400-47908800	Enhancers	Osteobl	bone
41	chr13:47908400-47911800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:47908400-47912200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:47908600-47908800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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