Variant report

Variant	esv3348131
Chromosome Location	chr13:93315126-93317224
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	chr13:93281680..93284628-chr13:93314114..93316635,2	K562	blood:
2	chr13:93316466..93319082-chr13:93326794..93329759,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569230201	chr13:93315129-93315130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538101293	chr13:93315189-93315190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148504284	chr13:93315237-93315238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4384485	chr13:93315265-93315266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61975920	chr13:93315327-93315328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61975921	chr13:93315329-93315330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542756698	chr13:93315353-93315354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114051857	chr13:93315361-93315362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572832817	chr13:93315429-93315430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116308241	chr13:93315491-93315492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564847257	chr13:93315521-93315522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530831638	chr13:93315564-93315565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182485822	chr13:93315575-93315576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561107681	chr13:93315666-93315667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9523756	chr13:93315700-93315701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547105364	chr13:93315732-93315733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185882326	chr13:93315815-93315816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371066796	chr13:93315829-93315830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376841590	chr13:93315830-93315831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188302664	chr13:93315844-93315845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562075954	chr13:93315846-93315847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71123430	chr13:93315847-93315848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144217812	chr13:93315848-93315849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11620564	chr13:93315850-93315851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369387869	chr13:93315866-93315867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372965913	chr13:93315867-93315868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377323597	chr13:93315868-93315869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370556356	chr13:93315877-93315878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370880109	chr13:93315890-93315891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373296460	chr13:93315892-93315893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538185743	chr13:93315903-93315904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533228405	chr13:93315906-93315907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181182849	chr13:93315959-93315960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375371237	chr13:93315980-93315981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368307451	chr13:93315990-93315991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185271812	chr13:93316008-93316009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117556494	chr13:93316017-93316018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529018371	chr13:93316023-93316024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190136734	chr13:93316046-93316047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376459003	chr13:93316061-93316062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200264988	chr13:93316068-93316069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372222799	chr13:93316077-93316078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554311252	chr13:93316082-93316083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9561101	chr13:93316099-93316100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202223460	chr13:93316110-93316111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9561103	chr13:93316111-93316112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9523757	chr13:93316156-93316157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9561104	chr13:93316158-93316159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75332133	chr13:93316160-93316161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111884849	chr13:93316172-93316173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD
Ependymoma	20639864	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93307400-93321800	Weak transcription	Right Atrium	heart

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