Variant report

Variant	nsv963334
Chromosome Location	chr3:76144827-76201280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1683 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1683 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566696593	chr3:76144888-76144889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200559502	chr3:76144901-76144902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539104192	chr3:76144926-76144927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534519839	chr3:76144929-76144930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59290141	chr3:76144934-76144935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11707316	chr3:76144948-76144949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560987076	chr3:76144952-76144953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576342283	chr3:76144978-76144979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184657654	chr3:76145022-76145023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565255141	chr3:76145065-76145066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532602359	chr3:76145146-76145147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541235244	chr3:76145153-76145154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79643570	chr3:76145162-76145163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571650008	chr3:76145177-76145178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138525977	chr3:76145226-76145227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548496170	chr3:76145255-76145256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149441130	chr3:76145282-76145283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549352714	chr3:76145416-76145417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190260762	chr3:76145525-76145526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530403337	chr3:76145551-76145552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552123214	chr3:76145567-76145568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570469785	chr3:76145606-76145607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374285289	chr3:76145616-76145617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73842984	chr3:76145663-76145664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144816790	chr3:76145848-76145849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565925573	chr3:76145915-76145916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536581329	chr3:76145946-76145947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72894541	chr3:76145964-76145965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576645056	chr3:76145978-76145979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543466354	chr3:76145983-76145984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574167543	chr3:76145989-76145990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558869812	chr3:76145992-76145993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180995153	chr3:76146013-76146014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541536814	chr3:76146049-76146050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60960803	chr3:76146087-76146088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529902381	chr3:76146088-76146089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542173107	chr3:76146165-76146166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76698293	chr3:76146180-76146181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113132851	chr3:76146198-76146199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201631507	chr3:76146211-76146212	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs567662266	chr3:76146212-76146213	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs530799728	chr3:76146313-76146314	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs191461802	chr3:76146348-76146349	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs371596911	chr3:76146378-76146379	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs570422319	chr3:76146406-76146407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375047582	chr3:76146427-76146428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546273593	chr3:76146440-76146441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542896250	chr3:76146441-76146442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181249328	chr3:76146479-76146480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76206595	chr3:76146505-76146506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76143400-76146400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:76143600-76148000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:76143800-76145200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:76143800-76145200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:76143800-76146000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:76143800-76148400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:76145200-76145400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:76145200-76147600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:76145400-76146200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:76145600-76148200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:76145800-76147400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:76146000-76147000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:76146200-76146400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:76146200-76146800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:76146400-76146600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:76146400-76146600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:76146400-76146800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:76146400-76146800	Enhancers	NHDF-Ad	bronchial
19	chr3:76146400-76147000	Enhancers	NH-A	brain
20	chr3:76147000-76148000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:76147600-76148400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:76148000-76148200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:76148000-76148200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:76148400-76148600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:76148400-76148600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:76148600-76148800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:76148600-76156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:76149000-76150600	Enhancers	Fetal Intestine Small	intestine
29	chr3:76149200-76150400	Enhancers	Fetal Intestine Large	intestine
30	chr3:76155800-76156400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:76156000-76156400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:76156000-76156400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:76156000-76156600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:76156200-76156800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:76156400-76157400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:76156400-76158400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:76156800-76157200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:76157200-76157600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:76157400-76157600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:76158400-76158800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:76158800-76180600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:76168800-76169600	Enhancers	Liver	Liver
43	chr3:76168800-76170400	Enhancers	Fetal Intestine Small	intestine
44	chr3:76169000-76170400	Enhancers	Fetal Intestine Large	intestine
45	chr3:76169200-76169400	Enhancers	Stomach Mucosa	stomach
46	chr3:76169400-76170800	Weak transcription	Stomach Mucosa	stomach
47	chr3:76169600-76169800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr3:76169800-76170000	Enhancers	Duodenum Mucosa	Duodenum
49	chr3:76169800-76170200	Weak transcription	Liver	Liver
50	chr3:76169800-76170800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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