Variant report

Variant	esv2760315
Chromosome Location	chr13:85046824-85070001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 518 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7324165	chr13:85046824-85046825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574570698	chr13:85046841-85046842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146183126	chr13:85046858-85046859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139052507	chr13:85046862-85046863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370281062	chr13:85046863-85046864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193219209	chr13:85046908-85046909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545930976	chr13:85046920-85046921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116205929	chr13:85046929-85046930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143984586	chr13:85047020-85047021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368084588	chr13:85047050-85047051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112075745	chr13:85047070-85047071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115195614	chr13:85047078-85047079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9319043	chr13:85047082-85047083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530645603	chr13:85047087-85047088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140705428	chr13:85047116-85047117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142942957	chr13:85047122-85047123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151081308	chr13:85047128-85047129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114087578	chr13:85047145-85047146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141003404	chr13:85047150-85047151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150208161	chr13:85047178-85047179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9319044	chr13:85047253-85047254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554762657	chr13:85047263-85047264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139129493	chr13:85047270-85047271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76700781	chr13:85047300-85047301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557126926	chr13:85047307-85047308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183871946	chr13:85047311-85047312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370425186	chr13:85047318-85047319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78403469	chr13:85047370-85047371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141590786	chr13:85047400-85047401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559636889	chr13:85047402-85047403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9319045	chr13:85047419-85047420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542119717	chr13:85047421-85047422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561881791	chr13:85047434-85047435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530685510	chr13:85047439-85047440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550654223	chr13:85047524-85047525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113212049	chr13:85047652-85047653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532978034	chr13:85047655-85047656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138225747	chr13:85047658-85047659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111961971	chr13:85047671-85047672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535000526	chr13:85047677-85047678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548431708	chr13:85047679-85047680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186635531	chr13:85047721-85047722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537241993	chr13:85047723-85047724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374129914	chr13:85047724-85047725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557466699	chr13:85047859-85047860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113787132	chr13:85047875-85047876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191920571	chr13:85047883-85047884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2121418	chr13:85047911-85047912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2121417	chr13:85047928-85047929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573242610	chr13:85047931-85047932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
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
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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85045200-85055200	Weak transcription	Aorta	Aorta
2	chr13:85052600-85053800	Enhancers	Osteobl	bone
3	chr13:85052600-85054200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:85052800-85053000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr13:85052800-85053800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:85053000-85054000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:85053200-85054600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:85053200-85054600	Enhancers	HMEC	breast
9	chr13:85053200-85054600	Enhancers	NHEK	skin
10	chr13:85053400-85054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:85053600-85054400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:85053800-85054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:85054000-85054600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr13:85054000-85056000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:85054200-85055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:85054800-85055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:85055400-85055800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:85055600-85056600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:85055800-85056400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:85055800-85056600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:85056000-85056600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:85056200-85056400	Enhancers	HMEC	breast
23	chr13:85056200-85056400	Enhancers	NHEK	skin
24	chr13:85064400-85065000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr13:85066200-85066400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:85067000-85067600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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