Variant report

Variant	esv3347807
Chromosome Location	chr13:64647451-64649399
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	chr13:64645390..64648132-chr13:64648675..64650217,2	K562	blood:

Variant related genes	Relation type
ENSG00000227674	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565061839	chr13:64647454-64647455	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs269628	chr13:64647489-64647490	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371377916	chr13:64647501-64647502	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548662905	chr13:64647716-64647717	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568267554	chr13:64647725-64647726	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550401374	chr13:64647809-64647810	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568609918	chr13:64647820-64647821	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529749329	chr13:64647908-64647909	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547748723	chr13:64647963-64647964	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566483413	chr13:64647981-64647982	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200890638	chr13:64648014-64648015	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144690809	chr13:64648015-64648016	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546389073	chr13:64648040-64648041	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9564131	chr13:64648059-64648060	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547254060	chr13:64648098-64648099	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374885487	chr13:64648185-64648186	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527454871	chr13:64648186-64648187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs71097603	chr13:64648208-64648209	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573864461	chr13:64648221-64648222	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185793927	chr13:64648229-64648230	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs377194164	chr13:64648233-64648234	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370369990	chr13:64648241-64648242	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs71683081	chr13:64648258-64648259	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71097604	chr13:64648287-64648288	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374834616	chr13:64648310-64648311	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs71097605	chr13:64648322-64648323	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138817151	chr13:64648328-64648329	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs190116423	chr13:64648375-64648376	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9571100	chr13:64648390-64648391	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539216817	chr13:64648429-64648430	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557589332	chr13:64648459-64648460	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs61956607	chr13:64648494-64648495	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs536761222	chr13:64648528-64648529	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554975337	chr13:64648537-64648538	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145642617	chr13:64648553-64648554	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188199759	chr13:64648640-64648641	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138171445	chr13:64648642-64648643	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs193299974	chr13:64648721-64648722	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577111887	chr13:64648805-64648806	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566615834	chr13:64648829-64648830	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79348996	chr13:64648855-64648856	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377326	chr13:64648862-64648863	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145653802	chr13:64648883-64648884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs9539917	chr13:64648896-64648897	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs61956608	chr13:64648968-64648969	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527267764	chr13:64648971-64648972	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551929994	chr13:64648978-64648979	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs141872897	chr13:64648983-64648984	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9528702	chr13:64648995-64648996	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs111568067	chr13:64649017-64649018	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64646200-64651400	Active TSS	K562	blood
2	chr13:64647400-64649000	Active TSS	HepG2	liver
3	chr13:64648200-64654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:64648600-64651600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:64649000-64650200	Bivalent/Poised TSS	HepG2	liver
6	chr13:64649000-64650600	Active TSS	Hela-S3	cervix
7	chr13:64649200-64650200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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