Variant report

Variant	nsv823218
Chromosome Location	chr5:128243196-128245626
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	chr5:128237270..128240135-chr5:128244832..128246396,2	MCF-7	breast:
2	chr5:128236339..128240186-chr5:128240250..128243674,3	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199842241	chr5:128243232-128243233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71223021	chr5:128243234-128243235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60458537	chr5:128243235-128243236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190309300	chr5:128243244-128243245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549458925	chr5:128243298-128243299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560414355	chr5:128243299-128243300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77592623	chr5:128243344-128243345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183112092	chr5:128243385-128243386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568959002	chr5:128243392-128243393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145459803	chr5:128243393-128243394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66636142	chr5:128243434-128243435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138091218	chr5:128243472-128243473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368649546	chr5:128243569-128243570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2577466	chr5:128243615-128243616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs376667877	chr5:128243632-128243633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570831811	chr5:128243637-128243638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539423672	chr5:128243640-128243641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143210986	chr5:128243680-128243681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114473559	chr5:128243706-128243707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552711919	chr5:128243709-128243710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541965413	chr5:128243723-128243724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187608625	chr5:128243746-128243747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2577467	chr5:128243787-128243788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs540445947	chr5:128243797-128243798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560169318	chr5:128243810-128243811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372175091	chr5:128243887-128243888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532484215	chr5:128243933-128243934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545807493	chr5:128243983-128243984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192793694	chr5:128243991-128243992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112409865	chr5:128243999-128244000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2522379	chr5:128244010-128244011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs182509787	chr5:128244020-128244021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10478827	chr5:128244057-128244058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547997088	chr5:128244068-128244069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75583359	chr5:128244111-128244112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373274691	chr5:128244133-128244134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539781232	chr5:128244176-128244177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2577468	chr5:128244185-128244186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs187863891	chr5:128244211-128244212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535860454	chr5:128244215-128244216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557402001	chr5:128244233-128244234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555553872	chr5:128244281-128244282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77282952	chr5:128244301-128244302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2545021	chr5:128244330-128244331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs113911677	chr5:128244332-128244333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111650826	chr5:128244337-128244338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71587996	chr5:128244338-128244339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77862381	chr5:128244359-128244360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565054801	chr5:128244380-128244381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546675656	chr5:128244492-128244493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128242200-128252400	Weak transcription	Fetal Heart	heart

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