Variant report

Variant	esv33246
Chromosome Location	chr13:38353893-38357951
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	EP300	chr13:38354980-38355342	SK-N-SH_RA	brain:	n/a	chr13:38355031-38355040 chr13:38355004-38355013
2	EP300	chr13:38354979-38355257	SK-N-SH_RA	brain:	n/a	chr13:38355031-38355040 chr13:38355004-38355013
3	GATA3	chr13:38354895-38355401	SK-N-SH	brain:	n/a	n/a
4	NFYA	chr13:38354055-38354297	GM12878	blood:	n/a	n/a
5	TCF12	chr13:38354884-38355384	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr13:38354813-38355390	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38346843..38348685-chr13:38354184..38356149,2	K562	blood:

Variant related genes	Relation type
TRPC4	TF binding region

Extended variants
information (count: 190 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577034275	chr13:38353900-38353901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141628862	chr13:38353904-38353905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183287063	chr13:38353929-38353930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368576134	chr13:38354069-38354070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576139744	chr13:38354073-38354074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1333376	chr13:38354100-38354101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186155608	chr13:38354102-38354103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116899562	chr13:38354182-38354183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541006057	chr13:38354183-38354184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150115360	chr13:38354194-38354195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533268298	chr13:38354220-38354221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7319967	chr13:38354254-38354255	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7325550	chr13:38354258-38354259	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529477323	chr13:38354270-38354271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549443031	chr13:38354287-38354288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568497598	chr13:38354321-38354322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566352522	chr13:38354327-38354328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116946944	chr13:38354349-38354350	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367793566	chr13:38354379-38354380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548711982	chr13:38354381-38354382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553817718	chr13:38354414-38354415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371240833	chr13:38354418-38354419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7321072	chr13:38354477-38354478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539163060	chr13:38354482-38354483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75778561	chr13:38354511-38354512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9315513	chr13:38354543-38354544	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs199618445	chr13:38354561-38354562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532251822	chr13:38354571-38354572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541992788	chr13:38354577-38354578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138422345	chr13:38354586-38354587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10507458	chr13:38354641-38354642	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533780731	chr13:38354693-38354694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555515540	chr13:38354707-38354708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17056644	chr13:38354735-38354736	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191518581	chr13:38354743-38354744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74334977	chr13:38354853-38354854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577910949	chr13:38354856-38354857	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368174757	chr13:38354858-38354859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543590578	chr13:38354868-38354869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563785631	chr13:38354924-38354925	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529490281	chr13:38354967-38354968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183390992	chr13:38354969-38354970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544315342	chr13:38354981-38354982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559950733	chr13:38354991-38354992	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187978814	chr13:38355081-38355082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552056181	chr13:38355093-38355094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570509747	chr13:38355110-38355111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192799958	chr13:38355163-38355164	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144008832	chr13:38355218-38355219	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572566425	chr13:38355237-38355238	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	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
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38350800-38354600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:38351000-38355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:38351000-38355800	Weak transcription	Osteobl	bone
4	chr13:38352200-38355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:38352400-38354200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:38352600-38357200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:38354200-38354400	Enhancers	Stomach Smooth Muscle	stomach
8	chr13:38354200-38357200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:38354400-38355000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr13:38354600-38356200	Enhancers	Colon Smooth Muscle	Colon
11	chr13:38354600-38356600	Enhancers	Rectal Smooth Muscle	rectum
12	chr13:38354600-38356800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:38354800-38356400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:38355000-38355200	Enhancers	Stomach Smooth Muscle	stomach
15	chr13:38355000-38355800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:38355600-38356200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr13:38355600-38356600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:38355600-38357000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:38355800-38356400	Enhancers	Osteobl	bone
20	chr13:38355800-38356800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:38355800-38359600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:38356200-38363400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:38356400-38356600	Weak transcription	Osteobl	bone
24	chr13:38356600-38357600	Strong transcription	Osteobl	bone
25	chr13:38356800-38360000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:38357200-38357400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:38357200-38357400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:38357400-38357800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:38357400-38360600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:38357600-38360000	Weak transcription	Osteobl	bone

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