Variant report

Variant	nsv541827
Chromosome Location	chr13:68983862-69177639
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69050045..69051722-chr13:69054182..69056211,2	K562	blood:
2	chr13:69088523..69091476-chr13:69096503..69098189,2	K562	blood:
3	chr13:69088523..69091476-chr13:69096503..69098189,2	K562	blood:
4	chr13:69008871..69009371-chr14:22109098..22109604,2	MCF-7	breast:
5	chr13:69114556..69116313-chr13:69119027..69121729,2	K562	blood:
6	chr13:69103616..69105375-chr17:73119662..73122575,2	MCF-7	breast:
7	chr13:69050045..69051722-chr13:69054182..69056211,2	K562	blood:
8	chr13:69114556..69116313-chr13:69119027..69121729,2	K562	blood:
9	chr13:69139136..69141049-chr13:69143175..69145902,2	K562	blood:
10	chr13:69139136..69141049-chr13:69143175..69145902,2	K562	blood:

No data

Extended variants
information (count: 670 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375218652	chr13:69000262-69000263	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs77404071	chr13:69000268-69000269	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116209891	chr13:69000312-69000313	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs149797630	chr13:69000330-69000331	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs145740445	chr13:69000353-69000354	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547949057	chr13:69000357-69000358	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115188953	chr13:69000365-69000366	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539574453	chr13:69000407-69000408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533824527	chr13:69000425-69000426	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547702508	chr13:69000441-69000442	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181227036	chr13:69000462-69000463	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573743302	chr13:69000469-69000470	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186056450	chr13:69000484-69000485	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs116693474	chr13:69000489-69000490	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538356945	chr13:69000529-69000530	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555171394	chr13:69000547-69000548	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4884779	chr13:69000557-69000558	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144998237	chr13:69013611-69013612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74842160	chr13:69013613-69013614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527601933	chr13:69013624-69013625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149072760	chr13:69013633-69013634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552851823	chr13:69013691-69013692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527643947	chr13:69013745-69013746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560501885	chr13:69013749-69013750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532624176	chr13:69013819-69013820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552432714	chr13:69013826-69013827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569430943	chr13:69013829-69013830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538007861	chr13:69013837-69013838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367769693	chr13:69013875-69013876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547080380	chr13:69013894-69013895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191374910	chr13:69013895-69013896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557666088	chr13:69013899-69013900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115517125	chr13:69013938-69013939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77405280	chr13:69013984-69013985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534248797	chr13:69013997-69013998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184321562	chr13:69014009-69014010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570152222	chr13:69014069-69014070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539514325	chr13:69014096-69014097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555937087	chr13:69014107-69014108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189077099	chr13:69014135-69014136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576094498	chr13:69014151-69014152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541629562	chr13:69014163-69014164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193298134	chr13:69014178-69014179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572350719	chr13:69014231-69014232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541373355	chr13:69014241-69014242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111235836	chr13:69014245-69014246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560488414	chr13:69014247-69014248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556460054	chr13:69014326-69014327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77793131	chr13:69014345-69014346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371795725	chr13:69014484-69014485	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69000200-69000400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:69000200-69000600	Active TSS	Esophagus	oesophagus
3	chr13:69000400-69000600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:69013600-69014600	Enhancers	HUVEC	blood vessel
5	chr13:69013600-69014600	Enhancers	NH-A	brain
6	chr13:69030200-69030600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:69054600-69054800	Enhancers	Left Ventricle	heart
8	chr13:69054600-69055000	Enhancers	Fetal Heart	heart
9	chr13:69054600-69055600	Enhancers	Pancreas	Pancrea
10	chr13:69054600-69056000	Enhancers	Ovary	ovary
11	chr13:69055000-69055400	Enhancers	Aorta	Aorta
12	chr13:69055000-69055400	Flanking Active TSS	Fetal Heart	heart
13	chr13:69055000-69056200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:69055400-69055600	Enhancers	Left Ventricle	heart
15	chr13:69055400-69056200	Enhancers	Fetal Heart	heart
16	chr13:69055600-69056000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:69068000-69068400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:69078600-69078800	ZNF genes & repeats	Pancreas	Pancrea
19	chr13:69078800-69081200	Weak transcription	Pancreas	Pancrea
20	chr13:69081000-69081400	Active TSS	Gastric	stomach
21	chr13:69081200-69081600	Enhancers	Pancreas	Pancrea
22	chr13:69081400-69081600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:69081400-69081600	Flanking Active TSS	Gastric	stomach
24	chr13:69100800-69101200	Enhancers	Primary B cells from peripheral blood	blood
25	chr13:69106400-69107000	Enhancers	Fetal Heart	heart
26	chr13:69121600-69121800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:69124000-69124800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:69124000-69126400	Enhancers	Fetal Heart	heart
29	chr13:69125600-69126000	Enhancers	Liver	Liver
30	chr13:69126000-69126400	Enhancers	Hela-S3	cervix
31	chr13:69126000-69126600	Flanking Active TSS	Liver	Liver
32	chr13:69126600-69126800	Enhancers	Liver	Liver
33	chr13:69138000-69138200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr13:69140400-69140600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr13:69148000-69148600	Enhancers	Liver	Liver
36	chr13:69148200-69148600	Enhancers	HepG2	liver
37	chr13:69151000-69151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:69151200-69151600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:69151200-69153200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:69151600-69153000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:69153000-69153400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:69153000-69154000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:69153200-69153600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:69162400-69163200	Enhancers	Primary B cells from peripheral blood	blood
45	chr13:69162800-69163200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr13:69162800-69163200	Enhancers	GM12878-XiMat	blood
47	chr13:69170600-69171400	Enhancers	Fetal Heart	heart
48	chr13:69170600-69172600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:69171000-69171400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr13:69171400-69171800	Weak transcription	Fetal Heart	heart

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