Variant report

Variant	nsv963565
Chromosome Location	chr3:82766875-82790137
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	chr3:82783149..82783905-chr5:6821092..6821880,2	MCF-7	breast:

Extended variants
information (count: 329 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80276796	chr3:82775035-82775036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12494700	chr3:82775093-82775094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560377564	chr3:82775094-82775095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17020111	chr3:82775131-82775132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs71829489	chr3:82775138-82775139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367587909	chr3:82775141-82775142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139857755	chr3:82775147-82775148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201923159	chr3:82775178-82775179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189582892	chr3:82775192-82775193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191690778	chr3:82775236-82775237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76038021	chr3:82775260-82775261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545334628	chr3:82775272-82775273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149860549	chr3:82775358-82775359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540015808	chr3:82775379-82775380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564680194	chr3:82775387-82775388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35753213	chr3:82775391-82775392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555926644	chr3:82782236-82782237	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566935115	chr3:82782248-82782249	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569348782	chr3:82782256-82782257	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs115671684	chr3:82782283-82782284	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557934463	chr3:82782292-82782293	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577758646	chr3:82782298-82782299	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187941206	chr3:82782336-82782337	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13093320	chr3:82782352-82782353	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79171320	chr3:82782354-82782355	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs542236159	chr3:82782364-82782365	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189672248	chr3:82782365-82782366	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs71328419	chr3:82782455-82782456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531447182	chr3:82782475-82782476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544733716	chr3:82782483-82782484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537699549	chr3:82782484-82782485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533354537	chr3:82782486-82782487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547352165	chr3:82782512-82782513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17733165	chr3:82782556-82782557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529576736	chr3:82782586-82782587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373780858	chr3:82782636-82782637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549406359	chr3:82782662-82782663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569109815	chr3:82782715-82782716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141998261	chr3:82782739-82782740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544181840	chr3:82782751-82782752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182376767	chr3:82782838-82782839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574057557	chr3:82782860-82782861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571451703	chr3:82782889-82782890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373463835	chr3:82782915-82782916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533715237	chr3:82782921-82782922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143330577	chr3:82782934-82782935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377043735	chr3:82782936-82782937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553521612	chr3:82782937-82782938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187048239	chr3:82782958-82782959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542475402	chr3:82783026-82783027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82775000-82775400	Enhancers	HepG2	liver
2	chr3:82782200-82782400	ZNF genes & repeats	Gastric	stomach
3	chr3:82782200-82784200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:82782400-82792400	Weak transcription	Gastric	stomach
5	chr3:82784200-82785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:82785400-82785800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:82785600-82786200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:82785600-82786200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:82785600-82786200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:82785800-82786000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr3:82785800-82786000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:82785800-82786200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:82785800-82786200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:82785800-82786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:82785800-82786200	Active TSS	Brain Hippocampus Middle	brain
16	chr3:82785800-82786400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr3:82785800-82786400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:82785800-82786400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:82786000-82786200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:82786000-82786200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:82786000-82786200	Enhancers	Left Ventricle	heart
22	chr3:82786000-82786400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:82786000-82786400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:82786000-82786400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:82786000-82786400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:82786200-82789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:82786200-82789600	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:82786200-82789800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:82786400-82789600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:82786400-82789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:82786400-82789600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:82788800-82790200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:82789400-82790000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:82789400-82790200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:82789600-82790000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:82789600-82790000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:82789600-82790000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:82789600-82790200	Enhancers	Brain Hippocampus Middle	brain
39	chr3:82789800-82790000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:82790000-82792200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:82790000-82792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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