Variant report

Variant	nsv523882
Chromosome Location	chr13:54895699-54898201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9596946	chr13:54895699-54895700	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148108518	chr13:54895734-54895735	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201723827	chr13:54895736-54895737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201574773	chr13:54895737-54895738	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141878024	chr13:54895738-54895739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56656106	chr13:54895739-54895740	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36104991	chr13:54895789-54895790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554062084	chr13:54895794-54895795	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533809842	chr13:54895796-54895797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544648549	chr13:54895811-54895812	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4884974	chr13:54895842-54895843	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs533332254	chr13:54895882-54895883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552210126	chr13:54895890-54895891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144429780	chr13:54895925-54895926	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555362260	chr13:54895936-54895937	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559553165	chr13:54895941-54895942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138365436	chr13:54895997-54895998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551738689	chr13:54896072-54896073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370060379	chr13:54896100-54896101	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568089456	chr13:54896175-54896176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530505372	chr13:54896253-54896254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113100204	chr13:54896260-54896261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370436542	chr13:54896271-54896272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575193676	chr13:54896343-54896344	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538997123	chr13:54896353-54896354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553397984	chr13:54896367-54896368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567147438	chr13:54896390-54896391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9591579	chr13:54896407-54896408	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555909002	chr13:54896447-54896448	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564240076	chr13:54896474-54896475	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533605590	chr13:54896480-54896481	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188170874	chr13:54896525-54896526	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117866406	chr13:54896532-54896533	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9591580	chr13:54896574-54896575	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191651463	chr13:54896584-54896585	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142906930	chr13:54896616-54896617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560704442	chr13:54896644-54896645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369640194	chr13:54896661-54896662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528365738	chr13:54896668-54896669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60561052	chr13:54896693-54896694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529582133	chr13:54896703-54896704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561559385	chr13:54896704-54896705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76959337	chr13:54896724-54896725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549652239	chr13:54896753-54896754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372317010	chr13:54896755-54896756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147425964	chr13:54896789-54896790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550262050	chr13:54896806-54896807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570169627	chr13:54896838-54896839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368429838	chr13:54896875-54896876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139712894	chr13:54896888-54896889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54880000-54929800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:54889800-54898400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:54892200-54897600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:54892600-54896600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:54892600-54903800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:54892800-54896400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:54892800-54923000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:54894400-54896600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:54895400-54895800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:54895400-54896400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:54895600-54896600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:54895800-54901600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:54896400-54896800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr13:54896400-54898400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:54896600-54897000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:54896600-54897200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr13:54896600-54903000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:54896800-54898800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:54897000-54897400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:54897000-54898000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:54897000-54898600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:54897200-54898200	Enhancers	Fetal Heart	heart
23	chr13:54897200-54898600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:54897200-54898600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:54897400-54897600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:54897400-54898800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:54897600-54898000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:54897600-54898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:54898000-54901400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:54898200-54902800	Weak transcription	Fetal Heart	heart
31	chr13:54898200-54903400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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