Variant report

Variant	nsv974230
Chromosome Location	chr13:95630218-95632750
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	chr13:95626619..95628570-chr13:95630331..95633317,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527806026	chr13:95630233-95630234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555136555	chr13:95630274-95630275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11616452	chr13:95630306-95630307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147883336	chr13:95630324-95630325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36054164	chr13:95630367-95630368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549958304	chr13:95630425-95630426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141498280	chr13:95630458-95630459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375788250	chr13:95630519-95630520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536105153	chr13:95630627-95630628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548704400	chr13:95630655-95630656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9590149	chr13:95630699-95630700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534434180	chr13:95630708-95630709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371413587	chr13:95630738-95630739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192325042	chr13:95630765-95630766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577788247	chr13:95630793-95630794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80144972	chr13:95630794-95630795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9590150	chr13:95630857-95630858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs537121063	chr13:95630937-95630938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573858062	chr13:95631014-95631015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542881368	chr13:95631035-95631036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147033135	chr13:95631065-95631066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559503415	chr13:95631096-95631097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1925881	chr13:95631146-95631147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371471227	chr13:95631226-95631227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528665025	chr13:95631241-95631242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8000763	chr13:95631243-95631244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552027602	chr13:95631251-95631252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564286989	chr13:95631289-95631290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533240893	chr13:95631300-95631301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113240154	chr13:95631323-95631324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116826718	chr13:95631349-95631350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373953748	chr13:95631370-95631371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6492760	chr13:95631394-95631395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549615750	chr13:95631444-95631445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571901955	chr13:95631471-95631472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566225218	chr13:95631489-95631490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149212192	chr13:95631501-95631502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556904521	chr13:95631514-95631515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551389747	chr13:95631534-95631535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573762226	chr13:95631537-95631538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186875367	chr13:95631552-95631553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537099656	chr13:95631561-95631562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557218217	chr13:95631576-95631577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1925880	chr13:95631603-95631604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536044027	chr13:95631621-95631622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191286969	chr13:95631634-95631635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143359620	chr13:95631639-95631640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184294041	chr13:95631644-95631645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541067016	chr13:95631650-95631651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1925879	chr13:95631659-95631660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95627200-95635800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:95627800-95631200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:95627800-95633400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:95630200-95632200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:95631200-95631400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:95631400-95635800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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