Variant report

Variant	esv3514160
Chromosome Location	chr13:76007799-76009529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:75995155..75997583-chr13:76008441..76010514,2	MCF-7	breast:
2	chr13:76006248..76008169-chr13:76054948..76056743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136111	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527391462	chr13:76007820-76007821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539104990	chr13:76007821-76007822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140572273	chr13:76007826-76007827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534448350	chr13:76007873-76007874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184481710	chr13:76007879-76007880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533772930	chr13:76007935-76007936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77648547	chr13:76007947-76007948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573852411	chr13:76008031-76008032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537767118	chr13:76008104-76008105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76039249	chr13:76008146-76008147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556357094	chr13:76008163-76008164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151183862	chr13:76008185-76008186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189191061	chr13:76008191-76008192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563970752	chr13:76008266-76008267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564564221	chr13:76008285-76008286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573288431	chr13:76008321-76008322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536294153	chr13:76008322-76008323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554120294	chr13:76008382-76008383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74366919	chr13:76008407-76008408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577484603	chr13:76008431-76008432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139788178	chr13:76008432-76008433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144336600	chr13:76008478-76008479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369169704	chr13:76008479-76008480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181129230	chr13:76008530-76008531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562695520	chr13:76008532-76008533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558109782	chr13:76008538-76008539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550241036	chr13:76008615-76008616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111806039	chr13:76008646-76008647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71433186	chr13:76008651-76008652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71433187	chr13:76008659-76008660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551598930	chr13:76008665-76008666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36120050	chr13:76008680-76008681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568784970	chr13:76008741-76008742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112524427	chr13:76008760-76008761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112614043	chr13:76008775-76008776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548928656	chr13:76008785-76008786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536127447	chr13:76008790-76008791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567160372	chr13:76008799-76008800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56065630	chr13:76008841-76008842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538099704	chr13:76008931-76008932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554257900	chr13:76008956-76008957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556497688	chr13:76008981-76008982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548020217	chr13:76009003-76009004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77694190	chr13:76009011-76009012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554034572	chr13:76009012-76009013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539595184	chr13:76009030-76009031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558210929	chr13:76009081-76009082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573258607	chr13:76009101-76009102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540383117	chr13:76009110-76009111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145914485	chr13:76009142-76009143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung
2	chr13:76000600-76011200	Weak transcription	K562	blood
3	chr13:76001800-76007800	Enhancers	Fetal Heart	heart
4	chr13:76002200-76007800	Enhancers	HepG2	liver
5	chr13:76005200-76014800	Weak transcription	Left Ventricle	heart
6	chr13:76005200-76017200	Weak transcription	Pancreas	Pancrea
7	chr13:76005200-76017600	Weak transcription	Right Atrium	heart
8	chr13:76006200-76011600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:76006800-76011800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:76007000-76011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:76007400-76009600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:76007400-76010200	Weak transcription	Ovary	ovary
13	chr13:76007400-76010600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr13:76007400-76011400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:76007400-76011800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:76007400-76011800	Weak transcription	NHDF-Ad	bronchial
17	chr13:76007400-76017000	Weak transcription	NHLF	lung
18	chr13:76007400-76017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:76007400-76018600	Weak transcription	Esophagus	oesophagus
20	chr13:76007400-76032000	Weak transcription	Gastric	stomach
21	chr13:76007600-76010000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:76007600-76011200	Weak transcription	Fetal Kidney	kidney
23	chr13:76007600-76012200	Weak transcription	Right Ventricle	heart
24	chr13:76007600-76014200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr13:76007800-76008200	Weak transcription	HepG2	liver
26	chr13:76007800-76011000	Weak transcription	Fetal Heart	heart
27	chr13:76008200-76008400	Enhancers	HepG2	liver
28	chr13:76008400-76011200	Weak transcription	HepG2	liver

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