Variant report

Variant	nsv900400
Chromosome Location	chr13:67256279-67343266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:
2	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
3	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
4	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
5	chr13:67066396..67067204-chr13:67263202..67263856,3	MCF-7	breast:
6	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
7	chr13:67263755..67264355-chr13:67798086..67798947,2	MCF-7	breast:
8	chr13:67065287..67067165-chr13:67261665..67264552,2	MCF-7	breast:
9	chr13:67273696..67276113-chr13:67277421..67279643,2	MCF-7	breast:

No data

Extended variants
information (count: 1984 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1984 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12869280	chr13:67256279-67256280	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555668935	chr13:67256298-67256299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35653531	chr13:67256365-67256366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574935477	chr13:67256369-67256370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540892433	chr13:67256395-67256396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569273689	chr13:67256404-67256405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142700058	chr13:67256452-67256453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554870632	chr13:67256468-67256469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371661143	chr13:67256485-67256486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546266317	chr13:67256487-67256488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562961622	chr13:67256506-67256507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67870305	chr13:67256513-67256514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539115873	chr13:67256517-67256518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531793835	chr13:67256522-67256523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573184169	chr13:67256558-67256559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548398765	chr13:67256559-67256560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11617809	chr13:67256563-67256564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368141402	chr13:67256586-67256587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563127723	chr13:67256593-67256594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546472099	chr13:67256602-67256603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116802955	chr13:67256629-67256630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113059039	chr13:67256660-67256661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551794873	chr13:67256673-67256674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141699866	chr13:67256725-67256726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150556260	chr13:67256729-67256730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111806370	chr13:67256737-67256738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181619744	chr13:67256796-67256797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184537971	chr13:67256801-67256802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9540867	chr13:67256819-67256820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9529117	chr13:67256861-67256862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188507007	chr13:67256875-67256876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34820583	chr13:67256909-67256910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181391939	chr13:67256914-67256915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185298956	chr13:67256935-67256936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567177286	chr13:67256957-67256958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139593797	chr13:67256971-67256972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372621243	chr13:67256983-67256984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542277551	chr13:67257044-67257045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368706501	chr13:67257142-67257143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562073306	chr13:67257144-67257145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535028839	chr13:67257152-67257153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113641056	chr13:67257171-67257172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9571621	chr13:67257181-67257182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545982233	chr13:67257195-67257196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546435119	chr13:67257230-67257231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560004129	chr13:67257240-67257241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190889145	chr13:67257272-67257273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143473893	chr13:67257302-67257303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144162656	chr13:67257348-67257349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531222384	chr13:67257349-67257350	Weak transcription	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
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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	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
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67255200-67256600	Enhancers	Fetal Lung	lung
2	chr13:67255400-67256400	Enhancers	Brain Substantia Nigra	brain
3	chr13:67255400-67256600	Enhancers	Brain Hippocampus Middle	brain
4	chr13:67255600-67257200	Enhancers	Brain Cingulate Gyrus	brain
5	chr13:67255600-67259200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:67255800-67256600	Enhancers	Brain Anterior Caudate	brain
7	chr13:67259200-67259600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:67259200-67259600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr13:67259200-67260000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:67259400-67260000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:67259600-67260000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr13:67260000-67260200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:67260000-67263400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:67261200-67261600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:67261800-67262000	Enhancers	Brain Substantia Nigra	brain
16	chr13:67262000-67274200	Weak transcription	Brain Substantia Nigra	brain
17	chr13:67263200-67263600	Enhancers	Brain Cingulate Gyrus	brain
18	chr13:67263200-67263800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr13:67263400-67263600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr13:67263400-67263800	Enhancers	Brain Angular Gyrus	brain
21	chr13:67263400-67263800	Enhancers	Fetal Brain Female	brain
22	chr13:67263400-67264000	Enhancers	Primary B cells from peripheral blood	blood
23	chr13:67263400-67264000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:67263400-67264000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:67263400-67264000	Enhancers	Osteobl	bone
26	chr13:67263400-67264200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:67263400-67264200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:67263400-67264200	Enhancers	Primary B cells from cord blood	blood
29	chr13:67263400-67265000	Enhancers	A549	lung
30	chr13:67263600-67263800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr13:67263600-67264400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:67263600-67265000	Enhancers	Fetal Kidney	kidney
33	chr13:67263600-67274200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr13:67263800-67264200	Weak transcription	Fetal Brain Female	brain
35	chr13:67263800-67264200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:67264200-67264400	Enhancers	Fetal Brain Female	brain
37	chr13:67264400-67268200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:67264400-67268200	Weak transcription	Fetal Brain Female	brain
39	chr13:67267800-67268000	Enhancers	Brain Hippocampus Middle	brain
40	chr13:67267800-67268200	Enhancers	Brain Anterior Caudate	brain
41	chr13:67267800-67268400	Enhancers	Fetal Heart	heart
42	chr13:67268000-67268400	Enhancers	Adipose Nuclei	Adipose
43	chr13:67268000-67268600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:67268000-67274200	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:67268200-67268600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:67268200-67268600	Enhancers	Fetal Brain Female	brain
47	chr13:67268600-67274200	Weak transcription	Fetal Brain Female	brain
48	chr13:67273400-67274000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:67273600-67274200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr13:67274200-67274400	Enhancers	Cortex derived primary cultured neurospheres	brain

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