Variant report

Variant	nsv520639
Chromosome Location	chr13:39525264-39529226
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	chr13:39521347..39523381-chr13:39525181..39526841,2	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs386770175	chr13:39525264-39525265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4381467	chr13:39525265-39525266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532172620	chr13:39525293-39525294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545594837	chr13:39525326-39525327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562599709	chr13:39525334-39525335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs41451545	chr13:39525339-39525340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547847101	chr13:39525380-39525381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568023931	chr13:39525391-39525392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10492696	chr13:39525412-39525413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536877164	chr13:39525439-39525440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547508390	chr13:39525454-39525455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570609871	chr13:39525456-39525457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539993670	chr13:39525469-39525470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10492695	chr13:39525486-39525487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183274690	chr13:39525491-39525492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10492694	chr13:39525498-39525499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555814918	chr13:39525508-39525509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572092261	chr13:39525520-39525521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546140667	chr13:39525545-39525546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147607113	chr13:39525568-39525569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557783901	chr13:39525589-39525590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545054851	chr13:39525605-39525606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142300926	chr13:39525616-39525617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545558089	chr13:39525620-39525621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10492693	chr13:39525642-39525643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35410120	chr13:39525686-39525687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144500064	chr13:39525715-39525716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542088776	chr13:39525744-39525745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151153556	chr13:39525754-39525755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527282755	chr13:39525853-39525854	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547422858	chr13:39525858-39525859	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564131703	chr13:39525864-39525865	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571243459	chr13:39525868-39525869	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73169412	chr13:39525907-39525908	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571314280	chr13:39525926-39525927	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188639500	chr13:39525949-39525950	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs192954359	chr13:39525967-39525968	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73451890	chr13:39525969-39525970	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531093368	chr13:39525994-39525995	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549642485	chr13:39525995-39525996	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566035261	chr13:39526020-39526021	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534656903	chr13:39526050-39526051	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9315637	chr13:39526109-39526110	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs386770176	chr13:39526151-39526152	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201621754	chr13:39526152-39526153	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73169414	chr13:39526175-39526176	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576173896	chr13:39526186-39526187	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs61945525	chr13:39526195-39526196	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145657437	chr13:39526197-39526198	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541707630	chr13:39526208-39526209	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39520200-39541600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:39521800-39526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:39525000-39525600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:39525200-39525400	Enhancers	Pancreas	Pancrea
5	chr13:39525400-39526400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr13:39525400-39526800	Weak transcription	Pancreas	Pancrea
7	chr13:39525600-39525800	Enhancers	HUVEC	blood vessel
8	chr13:39525800-39526400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:39525800-39526400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:39525800-39526400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr13:39525800-39526400	Flanking Active TSS	HUVEC	blood vessel
12	chr13:39525800-39526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:39526000-39526200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:39526000-39526200	Active TSS	Adipose Nuclei	Adipose
15	chr13:39526000-39526200	Active TSS	Duodenum Mucosa	Duodenum
16	chr13:39526000-39526400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:39526000-39526400	Active TSS	Right Atrium	heart
18	chr13:39526200-39526400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:39526200-39526400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr13:39526200-39526600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:39526200-39526600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr13:39526200-39526600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr13:39526200-39526600	Enhancers	Fetal Intestine Small	intestine
24	chr13:39526200-39527000	Enhancers	HMEC	breast
25	chr13:39526200-39529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:39526400-39526600	Enhancers	HUVEC	blood vessel
27	chr13:39526400-39526800	Enhancers	Brain Cingulate Gyrus	brain
28	chr13:39526600-39528000	Enhancers	NHEK	skin
29	chr13:39526600-39528200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:39526800-39527000	Enhancers	Pancreas	Pancrea
31	chr13:39526800-39527200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:39527000-39527800	Weak transcription	Pancreas	Pancrea
33	chr13:39527000-39528200	Weak transcription	HMEC	breast
34	chr13:39527800-39528000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:39527800-39528000	Enhancers	Pancreas	Pancrea
36	chr13:39528000-39532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:39528200-39529200	Enhancers	HMEC	breast
38	chr13:39528600-39528800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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