Variant report

Variant	esv10945
Chromosome Location	chr8:47540990-47553133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533920785	chr8:47547437-47547438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574290932	chr8:47547458-47547459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138660810	chr8:47547463-47547464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78890361	chr8:47547490-47547491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367919571	chr8:47547528-47547529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542467108	chr8:47547533-47547534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554597059	chr8:47547547-47547548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559893948	chr8:47547619-47547620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575794980	chr8:47547639-47547640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545107220	chr8:47547652-47547653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141173301	chr8:47547693-47547694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527313848	chr8:47547733-47547734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73572803	chr8:47547743-47547744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150318802	chr8:47547744-47547745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180997646	chr8:47547801-47547802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529618864	chr8:47547803-47547804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386725019	chr8:47547812-47547813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187167335	chr8:47547814-47547815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531783565	chr8:47547825-47547826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192094586	chr8:47547838-47547839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571635700	chr8:47547858-47547859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149502308	chr8:47547863-47547864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553751419	chr8:47547872-47547873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567281587	chr8:47547919-47547920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116430612	chr8:47547937-47547938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541103216	chr8:47547946-47547947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117364137	chr8:47547963-47547964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575857937	chr8:47547969-47547970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532732922	chr8:47547980-47547981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544859213	chr8:47547982-47547983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553982008	chr8:47548061-47548062	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182154612	chr8:47548148-47548149	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186828637	chr8:47548158-47548159	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541076378	chr8:47548180-47548181	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371752003	chr8:47548190-47548191	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146003744	chr8:47548196-47548197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139950074	chr8:47548269-47548270	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74543047	chr8:47548299-47548300	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373659441	chr8:47548391-47548392	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563154520	chr8:47548399-47548400	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531968359	chr8:47548433-47548434	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369009583	chr8:47548461-47548462	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549675405	chr8:47548483-47548484	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190711027	chr8:47548519-47548520	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527791905	chr8:47548629-47548630	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182627934	chr8:47548634-47548635	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187327561	chr8:47548656-47548657	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567341430	chr8:47548695-47548696	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557696789	chr8:47548711-47548712	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536221074	chr8:47548729-47548730	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47547400-47549400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:47547400-47549600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:47548000-47549200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:47549400-47554800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:47549600-47555000	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links