Variant report

Variant	esv3357726
Chromosome Location	chr13:69297551-69302049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556656239	chr13:69297569-69297570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576586548	chr13:69297584-69297585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192591214	chr13:69297610-69297611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370836366	chr13:69297614-69297615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562289899	chr13:69297621-69297622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201654857	chr13:69297623-69297624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199790432	chr13:69297624-69297625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564577471	chr13:69297625-69297626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552971882	chr13:69297641-69297642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73206183	chr13:69297662-69297663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372804991	chr13:69297715-69297716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574497472	chr13:69297744-69297745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540012197	chr13:69297746-69297747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549502399	chr13:69297755-69297756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541803126	chr13:69297771-69297772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141825412	chr13:69297798-69297799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544983474	chr13:69297801-69297802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556812253	chr13:69297826-69297827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572413011	chr13:69297871-69297872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150644815	chr13:69297876-69297877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551698720	chr13:69297886-69297887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571439779	chr13:69297898-69297899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576745754	chr13:69297908-69297909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539853464	chr13:69297939-69297940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556262168	chr13:69297986-69297987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564336525	chr13:69297994-69297995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576477784	chr13:69298047-69298048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139729071	chr13:69298071-69298072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377278011	chr13:69298088-69298089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535968254	chr13:69298110-69298111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185817676	chr13:69298131-69298132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190345436	chr13:69298191-69298192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182179862	chr13:69298198-69298199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564840310	chr13:69298225-69298226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149797943	chr13:69298241-69298242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs287489	chr13:69298306-69298307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562970029	chr13:69298312-69298313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528825825	chr13:69298328-69298329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548679659	chr13:69298358-69298359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559018043	chr13:69298489-69298490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528327006	chr13:69298518-69298519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542137169	chr13:69298555-69298556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12860678	chr13:69298818-69298819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542725784	chr13:69298824-69298825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140067343	chr13:69298857-69298858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571543745	chr13:69298878-69298879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74834385	chr13:69298904-69298905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186545347	chr13:69298931-69298932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374614138	chr13:69298942-69298943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556073036	chr13:69298956-69298957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69289400-69301400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:69290800-69301200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:69297400-69301400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:69301200-69301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:69301200-69301800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:69301400-69302200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:69301400-69302200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:69301800-69302200	Enhancers	Fetal Brain Female	brain
9	chr13:69301800-69302600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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