Variant report

Variant	nsv979771
Chromosome Location	chr3:76143057-76144827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563216491	chr3:76143168-76143169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533426394	chr3:76143221-76143222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186904864	chr3:76143238-76143239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6782618	chr3:76143239-76143240	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566485711	chr3:76143240-76143241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527830203	chr3:76143268-76143269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549056795	chr3:76143269-76143270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77338845	chr3:76143281-76143282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113925322	chr3:76143285-76143286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72304579	chr3:76143286-76143287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59815528	chr3:76143307-76143308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145221957	chr3:76143309-76143310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529515794	chr3:76143341-76143342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543314079	chr3:76143342-76143343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140738506	chr3:76143382-76143383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559834776	chr3:76143385-76143386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75937855	chr3:76143393-76143394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538509528	chr3:76143406-76143407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553776452	chr3:76143424-76143425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572059228	chr3:76143440-76143441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542775835	chr3:76143478-76143479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551116478	chr3:76143486-76143487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554682056	chr3:76143522-76143523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576175143	chr3:76143547-76143548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544807434	chr3:76143572-76143573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551431820	chr3:76143582-76143583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184198565	chr3:76143587-76143588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77311959	chr3:76143591-76143592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144586147	chr3:76143636-76143637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529954963	chr3:76143641-76143642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560154825	chr3:76143669-76143670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527662894	chr3:76143670-76143671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188270469	chr3:76143763-76143764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561070069	chr3:76143825-76143826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370401020	chr3:76143852-76143853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530533784	chr3:76143870-76143871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549950732	chr3:76143871-76143872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571350679	chr3:76143935-76143936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115396578	chr3:76143998-76143999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192553330	chr3:76144090-76144091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546577214	chr3:76144098-76144099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184469262	chr3:76144122-76144123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536274315	chr3:76144191-76144192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571226795	chr3:76144205-76144206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142305780	chr3:76144214-76144215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111401714	chr3:76144215-76144216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73842983	chr3:76144218-76144219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556766626	chr3:76144228-76144229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112897764	chr3:76144230-76144231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9815763	chr3:76144252-76144253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76141600-76143800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:76141800-76143400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:76141800-76143400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:76141800-76143400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:76141800-76143800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:76142200-76143200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:76142600-76143200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:76142800-76143200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:76143200-76143600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:76143200-76143600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:76143200-76143800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:76143200-76143800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:76143400-76143600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:76143400-76143800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:76143400-76146400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:76143600-76148000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:76143800-76145200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:76143800-76145200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:76143800-76146000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:76143800-76148400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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