Variant report

Variant	nsv598417
Chromosome Location	chr5:68319593-68320494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68312049..68314191-chr5:68317998..68320759,3	K562	blood:
2	chr5:68312049..68313667-chr5:68319112..68320759,2	K562	blood:
3	chr5:68319293..68321703-chr5:68323264..68324934,2	K562	blood:
4	chr14:47749473..47749973-chr5:68319722..68320581,2	MCF-7	breast:
5	chr5:68319705..68320603-chr5:68630318..68631248,3	K562	blood:
6	chr5:68320167..68322088-chr5:68342197..68344022,2	K562	blood:
7	chr5:68319643..68320584-chr5:68379379..68380063,3	K562	blood:
8	chr5:68319742..68320506-chr5:68379422..68380332,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC125-13	chr5:68320037-68320857	NONHSAT101881

No data

Extended variants
information (count: 25 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142747957	chr5:68319618-68319619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376644364	chr5:68319672-68319673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12697069	chr5:68319687-68319688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543502511	chr5:68319688-68319689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9885496	chr5:68319711-68319712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565106548	chr5:68319734-68319735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529260840	chr5:68319735-68319736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547436167	chr5:68319751-68319752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116578808	chr5:68319763-68319764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370759054	chr5:68319786-68319787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552072017	chr5:68319799-68319800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570527650	chr5:68319888-68319889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114296859	chr5:68319901-68319902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116459730	chr5:68319976-68319977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568189880	chr5:68320057-68320058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs192159884	chr5:68320126-68320127	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs374454021	chr5:68320165-68320166	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs147417759	chr5:68320236-68320237	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs572086493	chr5:68320238-68320239	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs564209281	chr5:68320267-68320268	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540109892	chr5:68320352-68320353	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs184723840	chr5:68320361-68320362	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs189654509	chr5:68320428-68320429	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544033530	chr5:68320430-68320431	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs180782660	chr5:68320434-68320435	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68318400-68320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:68320200-68320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:68320200-68320800	Enhancers	K562	blood
4	chr5:68320400-68327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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