Variant report

Variant	esv3335513
Chromosome Location	chr13:54749251-54752499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548213042	chr13:54749263-54749264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546294893	chr13:54749380-54749381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568094014	chr13:54749396-54749397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559856172	chr13:54749408-54749409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184702547	chr13:54749488-54749489	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115936645	chr13:54749505-54749506	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569844734	chr13:54749539-54749540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7993452	chr13:54749566-54749567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558633171	chr13:54749573-54749574	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188092074	chr13:54749607-54749608	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568662290	chr13:54749641-54749642	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534683366	chr13:54749662-54749663	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192904309	chr13:54749664-54749665	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144261460	chr13:54749685-54749686	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374003608	chr13:54749692-54749693	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544104656	chr13:54749695-54749696	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572405343	chr13:54749703-54749704	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184413095	chr13:54749709-54749710	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577390996	chr13:54749861-54749862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139045374	chr13:54749865-54749866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559506541	chr13:54749869-54749870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528592798	chr13:54749896-54749897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189611937	chr13:54749941-54749942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561790068	chr13:54749959-54749960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181868530	chr13:54749962-54749963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550068364	chr13:54749975-54749976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569813541	chr13:54750071-54750072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538906425	chr13:54750151-54750152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183968269	chr13:54750162-54750163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565876682	chr13:54750201-54750202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534748780	chr13:54750203-54750204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535028956	chr13:54750304-54750305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557830063	chr13:54750305-54750306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554663906	chr13:54750359-54750360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574377327	chr13:54750377-54750378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs795658	chr13:54750386-54750387	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142988904	chr13:54750397-54750398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189141267	chr13:54750413-54750414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180718023	chr13:54750475-54750476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372295088	chr13:54750493-54750494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577086168	chr13:54750539-54750540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539021521	chr13:54750541-54750542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552667503	chr13:54750561-54750562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541920671	chr13:54750607-54750608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201517572	chr13:54750613-54750614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12716696	chr13:54750655-54750656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71100812	chr13:54750660-54750661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561802623	chr13:54750691-54750692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530960088	chr13:54750693-54750694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540430492	chr13:54750730-54750731	Enhancers Weak transcription	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54747600-54751800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:54748000-54749800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:54748200-54749800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:54748600-54749800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:54748600-54750000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:54748800-54751000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:54749000-54749800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:54749000-54749800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:54749000-54750000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:54749000-54750400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:54749200-54749400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:54749200-54749400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:54749400-54749600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr13:54749400-54750200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr13:54749600-54749800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr13:54749600-54750000	Enhancers	Fetal Heart	heart
17	chr13:54749800-54752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:54749800-54752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:54750000-54753200	Weak transcription	Fetal Heart	heart
20	chr13:54750000-54754000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr13:54750000-54757200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:54750200-54750400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:54750400-54754200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:54750400-54758000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:54751000-54757600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:54751600-54752400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:54751800-54752800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:54752200-54752400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:54752400-54752600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:54752400-54758000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links