Variant report

Variant	nsv328643
Chromosome Location	chr5:68134744-68139215
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	chr5:68129992..68132424-chr5:68137163..68138732,2	K562	blood:
2	chr5:68119122..68120886-chr5:68132781..68135683,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528352653	chr5:68134750-68134751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546033269	chr5:68134785-68134786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531660951	chr5:68134805-68134806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148607246	chr5:68134815-68134816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142127697	chr5:68134938-68134939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546795259	chr5:68134963-68134964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151167907	chr5:68134980-68134981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547811541	chr5:68134991-68134992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200016947	chr5:68135071-68135072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190195413	chr5:68135087-68135088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139166979	chr5:68135143-68135144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193260581	chr5:68135170-68135171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570674246	chr5:68135201-68135202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538069728	chr5:68135205-68135206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144103966	chr5:68135224-68135225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574520291	chr5:68135237-68135238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2913290	chr5:68135260-68135261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35028055	chr5:68135300-68135301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553735148	chr5:68135308-68135309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141138877	chr5:68135328-68135329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35260480	chr5:68135342-68135343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535881285	chr5:68135366-68135367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144849343	chr5:68135388-68135389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543656438	chr5:68135409-68135410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149305436	chr5:68135442-68135443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367879796	chr5:68135503-68135504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149132764	chr5:68135552-68135553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554124908	chr5:68135556-68135557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143314192	chr5:68135576-68135577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78373959	chr5:68135592-68135593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185029605	chr5:68135685-68135686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2913291	chr5:68135694-68135695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113872940	chr5:68135841-68135842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73770570	chr5:68135847-68135848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189011853	chr5:68135853-68135854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141443375	chr5:68135920-68135921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534981215	chr5:68135922-68135923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535561448	chr5:68135946-68135947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375308425	chr5:68135979-68135980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553457423	chr5:68135997-68135998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147093640	chr5:68135999-68136000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181624221	chr5:68136005-68136006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138448136	chr5:68136032-68136033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16898243	chr5:68136084-68136085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs543570900	chr5:68136086-68136087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs118060248	chr5:68136127-68136128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370943018	chr5:68136149-68136150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74594866	chr5:68136153-68136154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79152862	chr5:68136159-68136160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34582206	chr5:68136192-68136193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68131200-68134800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:68131200-68135200	Weak transcription	Adipose Nuclei	Adipose
3	chr5:68133000-68142800	Weak transcription	Aorta	Aorta
4	chr5:68133600-68136800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:68134000-68135200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:68134000-68135600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:68134000-68135600	Enhancers	NHDF-Ad	bronchial
8	chr5:68134200-68135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:68134200-68135400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:68134200-68135400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:68134200-68135400	Enhancers	Placenta	Placenta
12	chr5:68134200-68135400	Enhancers	HMEC	breast
13	chr5:68134200-68135600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:68134200-68135800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:68134400-68135000	Enhancers	Esophagus	oesophagus
16	chr5:68134400-68135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:68134800-68135400	Enhancers	NHEK	skin
18	chr5:68134800-68135800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:68134800-68136000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:68135200-68135400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:68135200-68135600	Enhancers	Adipose Nuclei	Adipose
22	chr5:68135200-68139200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:68135400-68139400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:68135400-68143400	Weak transcription	HMEC	breast
25	chr5:68135400-68143600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:68135600-68136200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:68135600-68140000	Weak transcription	NHDF-Ad	bronchial
28	chr5:68135800-68136400	Enhancers	Psoas Muscle	Psoas
29	chr5:68136200-68136800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:68136800-68143400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:68138800-68139000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:68139200-68139800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:68139200-68140200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:68139200-68140400	Enhancers	HSMM	muscle

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