Variant report

Variant	nsv599406
Chromosome Location	chr5:112965930-112982650
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	chr5:112961563..112964546-chr5:112979790..112981581,2	K562	blood:

Extended variants
information (count: 282 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545700608	chr5:112970808-112970809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150483862	chr5:112970828-112970829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576904194	chr5:112970829-112970830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181529155	chr5:112970857-112970858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560341280	chr5:112970893-112970894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527948658	chr5:112970897-112970898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10064031	chr5:112970924-112970925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186141124	chr5:112970955-112970956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528398023	chr5:112970974-112970975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190859587	chr5:112970975-112970976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10050530	chr5:112971042-112971043	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181916517	chr5:112971090-112971091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547595279	chr5:112971098-112971099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141060414	chr5:112971108-112971109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565904280	chr5:112971118-112971119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377533301	chr5:112971121-112971122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35552641	chr5:112971132-112971133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2972677	chr5:112971137-112971138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs569624560	chr5:112971140-112971141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369755718	chr5:112971141-112971142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375653634	chr5:112971150-112971151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558302156	chr5:112971170-112971171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17135829	chr5:112971192-112971193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138312468	chr5:112971206-112971207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568849543	chr5:112971255-112971256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370724545	chr5:112971300-112971301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553910348	chr5:112971350-112971351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537520840	chr5:112971390-112971391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149461642	chr5:112971392-112971393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542864422	chr5:112971404-112971405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561241918	chr5:112971407-112971408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186566283	chr5:112971471-112971472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185912039	chr5:112971477-112971478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377672781	chr5:112971479-112971480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571032699	chr5:112971480-112971481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145750947	chr5:112971488-112971489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535385166	chr5:112971498-112971499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13154055	chr5:112971516-112971517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532612815	chr5:112971573-112971574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547927884	chr5:112971581-112971582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138751485	chr5:112971590-112971591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529918849	chr5:112971605-112971606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189788658	chr5:112971609-112971610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142749211	chr5:112971646-112971647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536973481	chr5:112971651-112971652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs960691	chr5:112971654-112971655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182965731	chr5:112971666-112971667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs960692	chr5:112971676-112971677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs150949750	chr5:112971688-112971689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147415011	chr5:112971696-112971697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112970800-112971200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:112970800-112971200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:112971200-112974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:112974200-112974600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr5:112974600-112976400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:112977600-112977800	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links