Variant report

Variant	esv3421943
Chromosome Location	chr13:88539451-88543249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547485195	chr13:88539485-88539486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150317890	chr13:88539559-88539560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539072905	chr13:88539561-88539562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557330071	chr13:88539587-88539588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188716820	chr13:88539596-88539597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370100433	chr13:88539659-88539660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181094342	chr13:88539665-88539666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574202262	chr13:88539687-88539688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541234256	chr13:88539694-88539695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373404005	chr13:88539742-88539743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553540678	chr13:88539750-88539751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138000816	chr13:88539757-88539758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545457972	chr13:88539773-88539774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543214755	chr13:88539774-88539775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1899460	chr13:88539816-88539817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575499764	chr13:88539834-88539835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185695665	chr13:88539869-88539870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557667892	chr13:88539920-88539921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561799484	chr13:88539937-88539938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9518780	chr13:88539938-88539939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142554678	chr13:88539946-88539947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568155188	chr13:88539997-88539998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76219527	chr13:88540004-88540005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367756378	chr13:88540045-88540046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs33940430	chr13:88540046-88540047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397750898	chr13:88540064-88540065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571932825	chr13:88540145-88540146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559376671	chr13:88540146-88540147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532855015	chr13:88540151-88540152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189328414	chr13:88540164-88540165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569313755	chr13:88540170-88540171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536617151	chr13:88540174-88540175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180827233	chr13:88540210-88540211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528038646	chr13:88540231-88540232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535250694	chr13:88540268-88540269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553593754	chr13:88540286-88540287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578185646	chr13:88540311-88540312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539135690	chr13:88540347-88540348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114041042	chr13:88540384-88540385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560444744	chr13:88540400-88540401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187320604	chr13:88540445-88540446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542640404	chr13:88540480-88540481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562042301	chr13:88540488-88540489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192172855	chr13:88540627-88540628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540869067	chr13:88540630-88540631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559132320	chr13:88540638-88540639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181582412	chr13:88540678-88540679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551086319	chr13:88540681-88540682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185696460	chr13:88540703-88540704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190109412	chr13:88540712-88540713	Enhancers 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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	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
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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88538200-88539800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:88539600-88540200	Enhancers	Fetal Stomach	stomach
3	chr13:88539800-88540800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:88540200-88541200	Weak transcription	Fetal Stomach	stomach
5	chr13:88541200-88542000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:88541400-88541600	Enhancers	Fetal Stomach	stomach

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