Variant report

Variant	esv3442909
Chromosome Location	chr13:87529651-87531799
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	chr13:87530439..87532752-chr13:87534404..87536619,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35969347	chr13:87529670-87529671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72635379	chr13:87529719-87529720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527825528	chr13:87529767-87529768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534690656	chr13:87529810-87529811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571802794	chr13:87529840-87529841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201690320	chr13:87529870-87529871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552660505	chr13:87529951-87529952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74999556	chr13:87529965-87529966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545422125	chr13:87529984-87529985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112898802	chr13:87530065-87530066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186911209	chr13:87530097-87530098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77762426	chr13:87530110-87530111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537053163	chr13:87530113-87530114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368962509	chr13:87530178-87530179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146714715	chr13:87530309-87530310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71799201	chr13:87530310-87530311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536134882	chr13:87530329-87530330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3071234	chr13:87530333-87530334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557640492	chr13:87530377-87530378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554591134	chr13:87530380-87530381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572466456	chr13:87530425-87530426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539944471	chr13:87530442-87530443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139496426	chr13:87530461-87530462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149698001	chr13:87530472-87530473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60137476	chr13:87530475-87530476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35490816	chr13:87530476-87530477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71445371	chr13:87530478-87530479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199767429	chr13:87530481-87530482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145540060	chr13:87530485-87530486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148888045	chr13:87530486-87530487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373830606	chr13:87530541-87530542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201442598	chr13:87530543-87530544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7990913	chr13:87530545-87530546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56406625	chr13:87530573-87530574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59178534	chr13:87530574-87530575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138194857	chr13:87530590-87530591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34855417	chr13:87530612-87530613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56160406	chr13:87530628-87530629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530474375	chr13:87530635-87530636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574272089	chr13:87530664-87530665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563101889	chr13:87530737-87530738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542992245	chr13:87530751-87530752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13378877	chr13:87530754-87530755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527636170	chr13:87530774-87530775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187053725	chr13:87530785-87530786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7991299	chr13:87530794-87530795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149118013	chr13:87530811-87530812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550780108	chr13:87530845-87530846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150387719	chr13:87530888-87530889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13378883	chr13:87530948-87530949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87529600-87530200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:87529600-87530200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:87530200-87532200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:87530200-87532800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links