Variant report

Variant	nsv876865
Chromosome Location	chr3:60996220-61046955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:
2	chr3:61010096..61013094-chr3:61013770..61016716,3	K562	blood:
3	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:
4	chr3:61010096..61013094-chr3:61013770..61016716,3	K562	blood:

Extended variants
information (count: 1922 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1922 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2118809	chr3:60996220-60996221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557000238	chr3:60996325-60996326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575269936	chr3:60996349-60996350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542603218	chr3:60996486-60996487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560905646	chr3:60996494-60996495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139291262	chr3:60996572-60996573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563641875	chr3:60996691-60996692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540930870	chr3:60996706-60996707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565445307	chr3:60996711-60996712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187713117	chr3:60996727-60996728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10510856	chr3:60996777-60996778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550922486	chr3:60996855-60996856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569333052	chr3:60996897-60996898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373376329	chr3:60996899-60996900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190942925	chr3:60996935-60996936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549419508	chr3:60996936-60996937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143310457	chr3:60996949-60996950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566532959	chr3:60996961-60996962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9842587	chr3:60996995-60996996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528288072	chr3:60997049-60997050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7621722	chr3:60997057-60997058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571482963	chr3:60997064-60997065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538802640	chr3:60997158-60997159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144845883	chr3:60997165-60997166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73836083	chr3:60997172-60997173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17064303	chr3:60997193-60997194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554557260	chr3:60997194-60997195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148181761	chr3:60997218-60997219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141162978	chr3:60997238-60997239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367894430	chr3:60997256-60997257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150735526	chr3:60997265-60997266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57001236	chr3:60997282-60997283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562952140	chr3:60997381-60997382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375669562	chr3:60997382-60997383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59318168	chr3:60997383-60997384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73836084	chr3:60997454-60997455	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566497623	chr3:60997457-60997458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547011868	chr3:60997472-60997473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552179714	chr3:60997480-60997481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536004024	chr3:60997481-60997482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114423317	chr3:60997501-60997502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200718320	chr3:60997594-60997595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538594986	chr3:60997632-60997633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114446363	chr3:60997716-60997717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568960557	chr3:60997719-60997720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115933540	chr3:60997731-60997732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372878858	chr3:60997740-60997741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74341515	chr3:60997867-60997868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566854799	chr3:60997888-60997889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541597072	chr3:60997917-60997918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60978400-60997600	Weak transcription	Pancreas	Pancrea
2	chr3:60995000-60997400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:60995000-61001000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:60995200-60997000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:60995200-60999400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:60995200-60999600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:60995600-61000800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:60997000-60997800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:60997400-60997600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:60999400-61000000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:61000000-61001200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:61000600-61001000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:61000800-61002400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr3:61001000-61001400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:61001000-61001400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:61001000-61001600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:61001000-61001600	Enhancers	Fetal Lung	lung
18	chr3:61001000-61001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:61001000-61001800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:61001000-61001800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:61001200-61001400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:61001200-61001600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:61001400-61002000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:61001400-61002000	Enhancers	Brain Anterior Caudate	brain
25	chr3:61001400-61002000	Enhancers	Dnd41	blood
26	chr3:61001400-61002400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr3:61001600-61002400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:61001600-61002800	Weak transcription	Fetal Lung	lung
29	chr3:61002800-61003600	Enhancers	Fetal Lung	lung
30	chr3:61011800-61012200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:61011800-61012400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:61012200-61016200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:61013200-61015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:61013600-61018800	Enhancers	HepG2	liver
35	chr3:61014000-61014200	Enhancers	Psoas Muscle	Psoas
36	chr3:61014200-61026400	Weak transcription	Psoas Muscle	Psoas
37	chr3:61014400-61015000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:61015000-61015400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:61015400-61019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:61015600-61015800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:61015600-61015800	Enhancers	Ovary	ovary
42	chr3:61015600-61016800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:61016200-61016400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:61016400-61016600	Enhancers	Ovary	ovary
45	chr3:61016400-61016800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:61017200-61017600	Weak transcription	GM12878-XiMat	blood
47	chr3:61017600-61017800	Enhancers	GM12878-XiMat	blood
48	chr3:61018000-61019000	Enhancers	K562	blood
49	chr3:61019400-61020400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:61020000-61028000	Weak transcription	Aorta	Aorta

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