Variant report

Variant	nsv977239
Chromosome Location	chr13:51733532-51738240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:51737353-51737603	HepG2	liver:	n/a	chr13:51737476-51737487
2	CEBPB	chr13:51737403-51737623	IMR90	lung:	n/a	chr13:51737476-51737487
3	CTCF	chr13:51735904-51735956	GM13976	blood:	n/a	n/a
4	E2F4	chr13:51738228-51738320	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:51738045-51738147	MCF10A-Er-Src	breast:	n/a	chr13:51738097-51738106 chr13:51738099-51738106 chr13:51738098-51738106
6	JUN	chr13:51738050-51738112	HepG2	liver:	n/a	chr13:51738097-51738106 chr13:51738099-51738106 chr13:51738098-51738106
7	JUND	chr13:51738016-51738230	HepG2	liver:	n/a	chr13:51738096-51738107 chr13:51738097-51738106 chr13:51738099-51738106 chr13:51738098-51738106
8	POLR2A	chr13:51736964-51736980	GM12878	blood:	n/a	n/a
9	REST	chr13:51732717-51734001	H1-neurons	neurons:	n/a	chr13:51733270-51733283
10	STAT3	chr13:51736448-51736546	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51730986..51733604-chr13:52024721..52026662,2	K562	blood:

Variant related genes	Relation type
RPL5P31	TF binding region
ENSG00000102786	chromatin interactions
ENSG00000236778	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181107599	chr13:51733533-51733534	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186383148	chr13:51733537-51733538	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190461739	chr13:51733623-51733624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141519569	chr13:51733653-51733654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565721140	chr13:51733668-51733669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9568536	chr13:51733692-51733693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547066758	chr13:51733697-51733698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563042662	chr13:51733732-51733733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530483025	chr13:51733747-51733748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550344993	chr13:51733761-51733762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570521295	chr13:51733786-51733787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533085801	chr13:51733801-51733802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546799290	chr13:51733806-51733807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566634297	chr13:51733807-51733808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139118654	chr13:51733858-51733859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115533209	chr13:51733859-51733860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529251595	chr13:51733871-51733872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116065971	chr13:51733881-51733882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538237866	chr13:51733932-51733933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10647207	chr13:51733937-51733938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368991812	chr13:51733938-51733939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577700789	chr13:51733956-51733957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374398902	chr13:51733987-51733988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540296304	chr13:51734001-51734002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2011865	chr13:51734077-51734078	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61310835	chr13:51734080-51734081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542821335	chr13:51734094-51734095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181629519	chr13:51734168-51734169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531959425	chr13:51734213-51734214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536891352	chr13:51734227-51734228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144131693	chr13:51734229-51734230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146033600	chr13:51734232-51734233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117197603	chr13:51734254-51734255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546689028	chr13:51734275-51734276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113167219	chr13:51734324-51734325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77097164	chr13:51734371-51734372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574130656	chr13:51734380-51734381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186192927	chr13:51734397-51734398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537785631	chr13:51734415-51734416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551669963	chr13:51734423-51734424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75615486	chr13:51734464-51734465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190752970	chr13:51734477-51734478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543153141	chr13:51734514-51734515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111801316	chr13:51734535-51734536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183964530	chr13:51734566-51734567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145757602	chr13:51734594-51734595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552998260	chr13:51734610-51734611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148964593	chr13:51734640-51734641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578101961	chr13:51734641-51734642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545662447	chr13:51734697-51734698	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51727000-51733800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:51728200-51742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:51729000-51749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr13:51730400-51734400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:51731800-51733800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:51731800-51734000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:51732000-51734200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:51732200-51734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:51732400-51734000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:51732600-51733600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:51732600-51733600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:51732600-51733600	Enhancers	Brain Hippocampus Middle	brain
13	chr13:51732600-51733800	Enhancers	Brain Germinal Matrix	brain
14	chr13:51732600-51733800	Enhancers	Fetal Muscle Leg	muscle
15	chr13:51732600-51734000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:51732800-51733600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:51732800-51733600	Enhancers	Fetal Lung	lung
18	chr13:51732800-51734000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:51733000-51734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:51733200-51733600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:51733200-51733600	Enhancers	NHDF-Ad	bronchial
22	chr13:51733200-51733800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:51733200-51733800	Enhancers	Fetal Brain Male	brain
24	chr13:51733400-51733600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:51733400-51733600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr13:51733400-51733800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr13:51733400-51741400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr13:51733400-51743600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:51733600-51734000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:51733600-51734000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr13:51733600-51735600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:51733600-51737600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:51733600-51741400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:51733800-51734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:51733800-51735400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:51734000-51735400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:51734000-51735400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:51734000-51735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:51734000-51736400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:51734000-51737800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:51734000-51737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:51734200-51737000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr13:51734400-51734600	Enhancers	Fetal Muscle Trunk	muscle
44	chr13:51735400-51735800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr13:51735400-51736000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:51735400-51736000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr13:51735600-51736000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr13:51735600-51736000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr13:51735800-51741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:51736000-51736600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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