Variant report

Variant	nsv1042211
Chromosome Location	chr13:76533224-76561483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76540838..76542386-chr13:76542518..76545047,2	MCF-7	breast:
2	chr13:76547458..76549080-chr13:76550616..76553437,2	K562	blood:
3	chr13:76547458..76549080-chr13:76550616..76553437,2	K562	blood:
4	chr13:76540838..76542386-chr13:76542518..76545047,2	MCF-7	breast:

Extended variants
information (count: 450 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1934829	chr13:76533224-76533225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138757008	chr13:76533243-76533244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564960344	chr13:76533252-76533253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570963524	chr13:76533258-76533259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148414634	chr13:76533268-76533269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576892770	chr13:76533325-76533326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199925726	chr13:76533326-76533327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558664825	chr13:76533374-76533375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192763116	chr13:76533389-76533390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547043191	chr13:76533424-76533425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565654334	chr13:76533444-76533445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377602832	chr13:76533449-76533450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562892957	chr13:76533497-76533498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145729197	chr13:76533505-76533506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554896659	chr13:76533588-76533589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183718222	chr13:76533589-76533590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537197677	chr13:76533597-76533598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12323295	chr13:76533628-76533629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578010131	chr13:76533643-76533644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548537758	chr13:76533647-76533648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112981637	chr13:76533665-76533666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9600612	chr13:76533674-76533675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148927946	chr13:76533741-76533742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528018157	chr13:76533764-76533765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118036777	chr13:76533799-76533800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542990117	chr13:76533800-76533801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187844141	chr13:76533817-76533818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9565208	chr13:76533837-76533838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549933623	chr13:76533912-76533913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564653951	chr13:76533948-76533949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192598371	chr13:76533962-76533963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184511962	chr13:76533967-76533968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189224217	chr13:76534009-76534010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113666386	chr13:76534029-76534030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192551428	chr13:76534053-76534054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548506498	chr13:76534058-76534059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569937921	chr13:76534060-76534061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184893729	chr13:76534104-76534105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558824586	chr13:76534168-76534169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576948945	chr13:76534169-76534170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550251924	chr13:76534192-76534193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537896453	chr13:76534202-76534203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554227705	chr13:76534214-76534215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189054659	chr13:76534219-76534220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542563438	chr13:76534223-76534224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554862607	chr13:76534249-76534250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549846847	chr13:76534258-76534259	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs180967433	chr13:76534265-76534266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs185203594	chr13:76534266-76534267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs148169403	chr13:76534292-76534293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76533000-76534400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:76533800-76534200	Enhancers	GM12878-XiMat	blood
3	chr13:76534200-76534600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:76534200-76534600	Enhancers	Fetal Lung	lung
5	chr13:76534200-76535000	Flanking Active TSS	GM12878-XiMat	blood
6	chr13:76534200-76538200	Enhancers	K562	blood
7	chr13:76534400-76534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:76534400-76534800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:76534800-76535000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:76534800-76536000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:76535000-76536400	Enhancers	GM12878-XiMat	blood
12	chr13:76535000-76537400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:76536000-76536200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:76536200-76537000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:76536800-76538000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:76537000-76537400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:76537000-76538000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:76537000-76538000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:76537000-76538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:76537200-76537800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:76537200-76538200	Enhancers	Fetal Heart	heart
22	chr13:76537400-76537800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:76537400-76537800	Enhancers	Right Atrium	heart
24	chr13:76537400-76537800	Enhancers	A549	lung
25	chr13:76537400-76538000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:76537400-76538000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:76537400-76538000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:76537400-76538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:76537600-76537800	Enhancers	Aorta	Aorta
30	chr13:76542000-76542600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:76542200-76542600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:76542200-76542600	Enhancers	NHDF-Ad	bronchial
33	chr13:76554000-76555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:76554200-76554600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:76558000-76559400	Enhancers	K562	blood
36	chr13:76558200-76558800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:76558600-76559000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:76559400-76559800	Flanking Active TSS	K562	blood
39	chr13:76559800-76561400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links