Variant report

Variant	nsv1020850
Chromosome Location	chr5:116214240-116229303
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	chr5:116216466..116219443-chr5:116220949..116224827,3	MCF-7	breast:
2	chr5:116216466..116219443-chr5:116220949..116224827,3	MCF-7	breast:

Extended variants
information (count: 841 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10078129	chr5:116214240-116214241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561793848	chr5:116214244-116214245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201030639	chr5:116214290-116214291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561772245	chr5:116214304-116214305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562688061	chr5:116214352-116214353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531646862	chr5:116214356-116214357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149762437	chr5:116214362-116214363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570587870	chr5:116214368-116214369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533095213	chr5:116214373-116214374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574501914	chr5:116214398-116214399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546899600	chr5:116214434-116214435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566636990	chr5:116214435-116214436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535491288	chr5:116214438-116214439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190678470	chr5:116214453-116214454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568985664	chr5:116214457-116214458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34943648	chr5:116214484-116214485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558406767	chr5:116214488-116214489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544033177	chr5:116214489-116214490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201676331	chr5:116214493-116214494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137883860	chr5:116214494-116214495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145876993	chr5:116214517-116214518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12655369	chr5:116214518-116214519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183575781	chr5:116214547-116214548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74550494	chr5:116214564-116214565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145803162	chr5:116214565-116214566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576141195	chr5:116214600-116214601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544127310	chr5:116214604-116214605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12655389	chr5:116214617-116214618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565212759	chr5:116214632-116214633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11750190	chr5:116214648-116214649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547807555	chr5:116214660-116214661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138443758	chr5:116214732-116214733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188910704	chr5:116214790-116214791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192358159	chr5:116214805-116214806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115698115	chr5:116214812-116214813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114798783	chr5:116214823-116214824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183650405	chr5:116214836-116214837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62374490	chr5:116214852-116214853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186827231	chr5:116214858-116214859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72250588	chr5:116214859-116214860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79490756	chr5:116214860-116214861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116750614	chr5:116214869-116214870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534452515	chr5:116214883-116214884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10071722	chr5:116214932-116214933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141347368	chr5:116214935-116214936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536510714	chr5:116214939-116214940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116534073	chr5:116214973-116214974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576056650	chr5:116214983-116214984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534299233	chr5:116215017-116215018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73260904	chr5:116215018-116215019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116206000-116215600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:116214200-116217200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:116215600-116216200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr5:116216000-116216600	Enhancers	Brain Germinal Matrix	brain
5	chr5:116216200-116224800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:116217200-116218600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:116217800-116218200	Enhancers	HepG2	liver
8	chr5:116218000-116222600	Enhancers	GM12878-XiMat	blood
9	chr5:116223600-116224200	Enhancers	Fetal Muscle Leg	muscle
10	chr5:116224800-116225200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:116224800-116225400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:116224800-116225400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:116225200-116231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:116225400-116233800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:116228600-116229200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:116229200-116231600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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