Variant report

Variant	nsv1038695
Chromosome Location	chr13:70484098-70654204
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:
2	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:
3	chr13:70521896..70524416-chr13:70526463..70528042,2	MCF-7	breast:
4	chr13:70508992..70509506-chr20:33082627..33083129,2	MCF-7	breast:
5	chr13:70508852..70509449-chr13:70884586..70885490,2	MCF-7	breast:
6	chr13:70627953..70628454-chr2:26525116..26525616,2	Hela-S3	cervix:
7	chr13:70521896..70524416-chr13:70526463..70528042,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-23	chr13:70615319-70615369	NONHSAT034249
2	lnc-BORA-23	chr13:70487274-70487381	NONHSAT034249
3	lnc-BORA-23	chr13:70639819-70640550	NONHSAT034249
4	lnc-BORA-23	chr13:70639503-70639559	NONHSAT034249

No data

Extended variants
information (count: 3099 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3099 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565549768	chr13:70486011-70486012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534562088	chr13:70486028-70486029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557679844	chr13:70486037-70486038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577555414	chr13:70486067-70486068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552806168	chr13:70486098-70486099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536678860	chr13:70486327-70486328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556994250	chr13:70486364-70486365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371595674	chr13:70486455-70486456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569751804	chr13:70486456-70486457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537210003	chr13:70486538-70486539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78714443	chr13:70486542-70486543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542759437	chr13:70486555-70486556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574152207	chr13:70486604-70486605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77463458	chr13:70486632-70486633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374826189	chr13:70486678-70486679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149181651	chr13:70486769-70486770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564661661	chr13:70486771-70486772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571830228	chr13:70486773-70486774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533338292	chr13:70486776-70486777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549880787	chr13:70486787-70486788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539074766	chr13:70486826-70486827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143405041	chr13:70486842-70486843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190606100	chr13:70486886-70486887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181484677	chr13:70486889-70486890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185631598	chr13:70486942-70486943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17085638	chr13:70486953-70486954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553385500	chr13:70486961-70486962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148383881	chr13:70486966-70486967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554483816	chr13:70486971-70486972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112487690	chr13:70486985-70486986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537371690	chr13:70486986-70486987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372068172	chr13:70487099-70487100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567279708	chr13:70487101-70487102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10507775	chr13:70487138-70487139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545383412	chr13:70487165-70487166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553150756	chr13:70487182-70487183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182809295	chr13:70487208-70487209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17085643	chr13:70487282-70487283	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs541674250	chr13:70487323-70487324	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs558354169	chr13:70487349-70487350	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs187933541	chr13:70487405-70487406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141566650	chr13:70487410-70487411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531030602	chr13:70487430-70487431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7328492	chr13:70487437-70487438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145288884	chr13:70487525-70487526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559453275	chr13:70487554-70487555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528247517	chr13:70487567-70487568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528940202	chr13:70487580-70487581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551257539	chr13:70487597-70487598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190675876	chr13:70487603-70487604	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70486000-70486600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:70486600-70495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:70487000-70487600	Enhancers	Fetal Muscle Leg	muscle
4	chr13:70487400-70487600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:70487600-70499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:70494800-70495800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:70495000-70495400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:70495000-70495800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:70495200-70495600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:70497800-70499200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:70498000-70498400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr13:70498000-70498400	Enhancers	Pancreas	Pancrea
13	chr13:70498400-70499000	Weak transcription	Pancreas	Pancrea
14	chr13:70499000-70499200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:70499000-70499200	ZNF genes & repeats	Pancreas	Pancrea
16	chr13:70510600-70512800	Active TSS	Hela-S3	cervix
17	chr13:70510800-70511200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:70512200-70512600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:70512800-70513600	Weak transcription	Hela-S3	cervix
20	chr13:70513600-70514400	Active TSS	Hela-S3	cervix
21	chr13:70514400-70515200	Weak transcription	Hela-S3	cervix
22	chr13:70515200-70515400	Enhancers	Hela-S3	cervix
23	chr13:70515400-70516000	Weak transcription	Hela-S3	cervix
24	chr13:70516000-70516200	Enhancers	Hela-S3	cervix
25	chr13:70520800-70522800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:70521200-70521600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr13:70521400-70521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:70521600-70521800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr13:70521800-70522000	Enhancers	GM12878-XiMat	blood
30	chr13:70521800-70522200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr13:70521800-70522400	Enhancers	Fetal Kidney	kidney
32	chr13:70521800-70522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:70522000-70522200	Flanking Active TSS	GM12878-XiMat	blood
34	chr13:70522200-70522400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr13:70522200-70522400	Enhancers	GM12878-XiMat	blood
36	chr13:70522400-70522800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:70522400-70522800	Flanking Active TSS	GM12878-XiMat	blood
38	chr13:70522600-70523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:70522800-70523000	Enhancers	GM12878-XiMat	blood
40	chr13:70525200-70525400	Enhancers	Hela-S3	cervix
41	chr13:70525400-70533200	Weak transcription	Hela-S3	cervix
42	chr13:70528600-70529800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:70528600-70530000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:70530000-70533200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:70533000-70534000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:70533200-70533600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:70533200-70533600	Enhancers	Hela-S3	cervix
48	chr13:70533200-70533800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:70533200-70534000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr13:70533200-70534000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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