Variant report

Variant	nsv522672
Chromosome Location	chr13:51117562-51119737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51113494..51115464-chr13:51117918..51119427,2	K562	blood:
2	chr13:51115179..51116952-chr13:51118323..51120008,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3116605	chr13:51117562-51117563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563724135	chr13:51117582-51117583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143445199	chr13:51117595-51117596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111564848	chr13:51117597-51117598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs66923510	chr13:51117598-51117599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10653719	chr13:51117599-51117600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200860914	chr13:51117600-51117601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201434395	chr13:51117601-51117602	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs532870243	chr13:51117659-51117660	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs150772303	chr13:51117684-51117685	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559937107	chr13:51117707-51117708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138288324	chr13:51117791-51117792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182663320	chr13:51117820-51117821	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570136790	chr13:51117821-51117822	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187985256	chr13:51117850-51117851	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs117054522	chr13:51117873-51117874	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75696409	chr13:51118015-51118016	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142866764	chr13:51118034-51118035	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368069554	chr13:51118055-51118056	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs200805071	chr13:51118147-51118148	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552980497	chr13:51118148-51118149	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574581605	chr13:51118157-51118158	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377307073	chr13:51118160-51118161	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs193024202	chr13:51118275-51118276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556655746	chr13:51118339-51118340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531824769	chr13:51118353-51118354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115316215	chr13:51118404-51118405	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17074558	chr13:51118449-51118450	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563786693	chr13:51118494-51118495	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572741149	chr13:51118510-51118511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541720639	chr13:51118548-51118549	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571726168	chr13:51118561-51118562	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369561617	chr13:51118577-51118578	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559749226	chr13:51118642-51118643	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183488336	chr13:51118726-51118727	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76639735	chr13:51118735-51118736	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188941852	chr13:51118890-51118891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569227110	chr13:51118937-51118938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75416860	chr13:51118945-51118946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372224464	chr13:51119005-51119006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3116606	chr13:51119072-51119073	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs140011959	chr13:51119088-51119089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375875822	chr13:51119090-51119091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1239954	chr13:51119137-51119138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
45	rs74077828	chr13:51119138-51119139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568232560	chr13:51119154-51119155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535349263	chr13:51119257-51119258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555390491	chr13:51119258-51119259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192408029	chr13:51119262-51119263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568710525	chr13:51119326-51119327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Trisomy	24170809	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
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51114000-51118200	Weak transcription	Fetal Stomach	stomach
2	chr13:51115800-51118000	Enhancers	Fetal Muscle Leg	muscle
3	chr13:51116200-51119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:51116400-51117800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:51116400-51118000	Enhancers	Adipose Nuclei	Adipose
6	chr13:51116400-51119000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:51116600-51117600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:51116600-51118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:51116600-51119000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:51116600-51119200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:51116600-51119200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:51116600-51119200	Enhancers	HSMMtube	muscle
13	chr13:51116800-51117600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:51116800-51117600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:51116800-51117600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr13:51116800-51117800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:51116800-51117800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:51116800-51117800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:51116800-51118000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:51116800-51118200	Enhancers	Psoas Muscle	Psoas
21	chr13:51116800-51119000	Enhancers	Fetal Lung	lung
22	chr13:51117000-51118400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:51117200-51117600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:51117200-51117600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:51117200-51117800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:51117200-51117800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:51117200-51117800	Enhancers	Osteobl	bone
28	chr13:51117200-51118200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:51117200-51118600	Enhancers	HSMM	muscle
30	chr13:51117400-51118200	Enhancers	NHDF-Ad	bronchial
31	chr13:51117400-51119000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:51117600-51117800	Enhancers	Brain Hippocampus Middle	brain
33	chr13:51117600-51118000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:51117600-51118000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:51117600-51118000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:51117600-51118400	Enhancers	NH-A	brain
37	chr13:51117600-51118600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:51117600-51118600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:51117600-51119000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:51117600-51119200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr13:51117600-51122400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr13:51117800-51118000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:51117800-51118000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr13:51117800-51118200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr13:51117800-51118200	Active TSS	Brain Anterior Caudate	brain
46	chr13:51117800-51118200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr13:51117800-51118200	Active TSS	Brain Substantia Nigra	brain
48	chr13:51117800-51118200	Flanking Active TSS	Osteobl	bone
49	chr13:51117800-51118400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:51117800-51118400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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