Variant report

Variant	nsv562139
Chromosome Location	chr13:67504844-67521014
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:
2	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
3	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
4	chr13:67517858..67520029-chr13:67533541..67536022,2	K562	blood:
5	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-14	chr13:67517880-67518119	NONHSAT034214

No data

Extended variants
information (count: 442 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9571695	chr13:67504844-67504845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559760837	chr13:67504846-67504847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533512025	chr13:67504852-67504853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571081212	chr13:67504859-67504860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190707723	chr13:67504900-67504901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73503488	chr13:67504906-67504907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369775515	chr13:67504946-67504947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535471280	chr13:67504947-67504948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9571696	chr13:67504948-67504949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572157195	chr13:67504968-67504969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35400909	chr13:67504975-67504976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540057434	chr13:67504978-67504979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553513848	chr13:67505007-67505008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576944665	chr13:67505027-67505028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374733842	chr13:67505083-67505084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536524205	chr13:67505089-67505090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183052478	chr13:67505121-67505122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145569467	chr13:67505210-67505211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369020322	chr13:67505218-67505219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116674897	chr13:67505223-67505224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541809152	chr13:67505279-67505280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561770243	chr13:67505410-67505411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188747292	chr13:67505417-67505418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548128730	chr13:67505422-67505423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548028418	chr13:67505505-67505506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148890811	chr13:67505552-67505553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530178826	chr13:67505576-67505577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537247995	chr13:67505656-67505657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533358050	chr13:67505692-67505693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558644105	chr13:67505706-67505707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143613752	chr13:67505758-67505759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192343955	chr13:67505794-67505795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549525576	chr13:67505800-67505801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535459595	chr13:67505801-67505802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151238899	chr13:67505858-67505859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184727939	chr13:67505862-67505863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567633390	chr13:67505877-67505878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534972129	chr13:67505904-67505905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs36090290	chr13:67505942-67505943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534825092	chr13:67505951-67505952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376567550	chr13:67505958-67505959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557949856	chr13:67505995-67505996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141529611	chr13:67506022-67506023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147044028	chr13:67506055-67506056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187280582	chr13:67506096-67506097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78326726	chr13:67506125-67506126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376395144	chr13:67506140-67506141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377661933	chr13:67506160-67506161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117662462	chr13:67506208-67506209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114283881	chr13:67506218-67506219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67501600-67507600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:67501800-67505000	Weak transcription	HUVEC	blood vessel
3	chr13:67502000-67507400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:67502000-67507800	Weak transcription	Osteobl	bone
5	chr13:67502200-67507600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:67502200-67507600	Weak transcription	HMEC	breast
7	chr13:67504600-67505200	Enhancers	Brain Substantia Nigra	brain
8	chr13:67504600-67505200	Enhancers	Dnd41	blood
9	chr13:67504600-67506600	Enhancers	A549	lung
10	chr13:67505000-67505400	Enhancers	HUVEC	blood vessel
11	chr13:67505400-67507400	Weak transcription	Primary B cells from cord blood	blood
12	chr13:67506600-67507000	Weak transcription	A549	lung
13	chr13:67507000-67507600	Enhancers	A549	lung
14	chr13:67507400-67508200	Enhancers	Primary B cells from cord blood	blood
15	chr13:67507400-67508600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:67507600-67507800	Flanking Active TSS	A549	lung
17	chr13:67507600-67508000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:67507600-67508000	Enhancers	HMEC	breast
19	chr13:67507600-67508000	Enhancers	NHEK	skin
20	chr13:67507600-67508600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:67507600-67508800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:67507800-67508200	Enhancers	Osteobl	bone
23	chr13:67507800-67508400	Enhancers	Primary B cells from peripheral blood	blood
24	chr13:67507800-67508600	Enhancers	NH-A	brain
25	chr13:67507800-67508800	Active TSS	A549	lung
26	chr13:67508000-67508600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:67508000-67508600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:67508000-67508600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:67508200-67508400	Flanking Active TSS	Osteobl	bone
30	chr13:67508400-67508800	Active TSS	Osteobl	bone
31	chr13:67508600-67513600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:67513600-67514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:67513600-67514400	Enhancers	HMEC	breast
34	chr13:67513600-67514800	Enhancers	HUVEC	blood vessel
35	chr13:67514200-67514600	Enhancers	A549	lung
36	chr13:67518200-67519200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:67518600-67519600	Enhancers	Primary B cells from peripheral blood	blood
38	chr13:67518600-67519600	Enhancers	Dnd41	blood
39	chr13:67518800-67519400	Enhancers	Primary B cells from cord blood	blood
40	chr13:67519400-67520000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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