Variant report

Variant	nsv900494
Chromosome Location	chr13:70583646-70644890
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:
2	chr13:70627953..70628454-chr2:26525116..26525616,2	Hela-S3	cervix:
3	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-23	chr13:70639503-70639559	NONHSAT034249
2	lnc-BORA-23	chr13:70639819-70640550	NONHSAT034249
3	lnc-BORA-23	chr13:70615319-70615369	NONHSAT034249

No data

Extended variants
information (count: 1258 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1258 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573036831	chr13:70585726-70585727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545312838	chr13:70585824-70585825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564869222	chr13:70585845-70585846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs180863727	chr13:70585938-70585939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75639940	chr13:70585941-70585942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185131173	chr13:70585952-70585953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371081798	chr13:70585969-70585970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138581475	chr13:70586006-70586007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs9572335	chr13:70586022-70586023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9542158	chr13:70586032-70586033	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552094422	chr13:70586116-70586117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76344813	chr13:70586151-70586152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2033988	chr13:70586195-70586196	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189505160	chr13:70586199-70586200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75949187	chr13:70586223-70586224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536785319	chr13:70586274-70586275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552868273	chr13:70586284-70586285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546159782	chr13:70586295-70586296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs573038405	chr13:70586301-70586302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs149332120	chr13:70586327-70586328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373970390	chr13:70586347-70586348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs558850261	chr13:70586448-70586449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575612420	chr13:70586462-70586463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs2501248	chr13:70586491-70586492	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9317864	chr13:70586499-70586500	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569632700	chr13:70586500-70586501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181820568	chr13:70586565-70586566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs540371288	chr13:70586593-70586594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs55791676	chr13:70586655-70586656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537364926	chr13:70586659-70586660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370706923	chr13:70586668-70586669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543403802	chr13:70586681-70586682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551563875	chr13:70586689-70586690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs386772060	chr13:70586693-70586694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77145153	chr13:70586694-70586695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2501249	chr13:70586709-70586710	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2243802	chr13:70586772-70586773	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567349204	chr13:70586791-70586792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2472281	chr13:70586817-70586818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529011319	chr13:70586818-70586819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566859545	chr13:70586824-70586825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538779281	chr13:70586870-70586871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532443795	chr13:70586887-70586888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558808277	chr13:70586914-70586915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113252418	chr13:70586915-70586916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55704507	chr13:70586991-70586992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148472799	chr13:70586992-70586993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574415711	chr13:70586999-70587000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199700432	chr13:70587033-70587034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5804457	chr13:70587034-70587035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70585600-70586800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:70586800-70587200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:70587200-70588000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:70590800-70593000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:70592400-70593400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:70593000-70594200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:70593200-70594200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:70594200-70594400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:70594200-70595600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:70594400-70596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:70595600-70602800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:70596200-70596400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:70596200-70597800	Enhancers	Fetal Brain Male	brain
14	chr13:70600000-70600400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:70602800-70609400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:70609400-70609600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:70610400-70610800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr13:70616400-70617200	Enhancers	Fetal Intestine Small	intestine
19	chr13:70617000-70617400	Enhancers	Fetal Intestine Large	intestine
20	chr13:70617600-70618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:70618200-70620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:70620800-70621600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:70622800-70623200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:70623000-70623600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr13:70624800-70625400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr13:70639200-70639600	Enhancers	Fetal Brain Female	brain

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