Variant report

Variant	esv3433026
Chromosome Location	chr8:112850376-112854074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148562565	chr8:112851601-112851602	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182236695	chr8:112851623-112851624	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116733927	chr8:112851648-112851649	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556826826	chr8:112851726-112851727	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186623096	chr8:112851760-112851761	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571951730	chr8:112851767-112851768	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540314700	chr8:112851775-112851776	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560411516	chr8:112851778-112851779	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577290739	chr8:112851838-112851839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114491686	chr8:112851869-112851870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75685310	chr8:112851884-112851885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576864111	chr8:112851904-112851905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141941420	chr8:112851917-112851918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562256284	chr8:112851942-112851943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545516621	chr8:112851952-112851953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527920666	chr8:112851968-112851969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553989381	chr8:112851979-112851980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73324326	chr8:112851985-112851986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570421117	chr8:112852009-112852010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541532396	chr8:112852015-112852016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549467538	chr8:112852020-112852021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193006774	chr8:112852032-112852033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535354870	chr8:112852051-112852052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150653673	chr8:112852121-112852122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565518376	chr8:112852129-112852130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139755171	chr8:112852158-112852159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7812642	chr8:112852193-112852194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577228382	chr8:112852270-112852271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144656351	chr8:112852288-112852289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147881711	chr8:112852291-112852292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576545952	chr8:112852313-112852314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75663073	chr8:112852314-112852315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139818890	chr8:112852334-112852335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542160700	chr8:112852398-112852399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184670960	chr8:112852399-112852400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144525176	chr8:112852415-112852416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147847302	chr8:112852416-112852417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561922874	chr8:112852423-112852424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532886122	chr8:112852459-112852460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190387342	chr8:112852501-112852502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148888768	chr8:112852544-112852545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528886120	chr8:112852562-112852563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143538513	chr8:112852589-112852590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150966472	chr8:112852599-112852600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140784930	chr8:112852624-112852625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536865963	chr8:112852642-112852643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76766216	chr8:112852681-112852682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144645269	chr8:112852691-112852692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539540790	chr8:112852694-112852695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550745649	chr8:112852701-112852702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112851600-112851800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:112851600-112851800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:112851600-112851800	ZNF genes & repeats	Pancreas	Pancrea
4	chr8:112851800-112857800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links