Variant report

Variant	nsv7955
Chromosome Location	chr6:114696833-114698938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181664766	chr6:114696837-114696838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553774072	chr6:114696870-114696871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142898477	chr6:114696938-114696939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147718588	chr6:114696944-114696945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375391866	chr6:114696959-114696960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577801846	chr6:114696979-114696980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142576669	chr6:114697089-114697090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146952554	chr6:114697099-114697100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372617996	chr6:114697114-114697115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553851876	chr6:114697125-114697126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576762887	chr6:114697144-114697145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542222042	chr6:114697209-114697210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147595530	chr6:114697263-114697264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371722966	chr6:114697272-114697273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377567068	chr6:114697293-114697294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1337333	chr6:114697294-114697295	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79805804	chr6:114697322-114697323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565426311	chr6:114697340-114697341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532770668	chr6:114697371-114697372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12530206	chr6:114697399-114697400	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377356956	chr6:114697448-114697449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559903429	chr6:114697510-114697511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35501014	chr6:114697539-114697540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534134927	chr6:114697558-114697559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530176871	chr6:114697590-114697591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150092303	chr6:114697621-114697622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114628617	chr6:114697644-114697645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530796373	chr6:114697651-114697652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202161219	chr6:114697839-114697840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138624033	chr6:114697861-114697862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538841054	chr6:114697865-114697866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186197374	chr6:114697896-114697897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565438068	chr6:114697945-114697946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371884237	chr6:114697972-114697973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375165103	chr6:114698047-114698048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190571990	chr6:114698093-114698094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554237123	chr6:114698167-114698168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574604041	chr6:114698244-114698245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575668495	chr6:114698255-114698256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149325000	chr6:114698291-114698292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373345063	chr6:114698308-114698309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543030947	chr6:114698338-114698339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559226177	chr6:114698377-114698378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9400716	chr6:114698393-114698394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541623590	chr6:114698394-114698395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201622840	chr6:114698411-114698412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34913569	chr6:114698413-114698414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201522581	chr6:114698414-114698415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200374223	chr6:114698415-114698416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369459575	chr6:114698427-114698428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114683000-114699800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:114686200-114705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:114686400-114697200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:114689400-114697400	Weak transcription	Fetal Intestine Large	intestine
5	chr6:114690800-114697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:114693200-114697600	Weak transcription	HepG2	liver
7	chr6:114696000-114698200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:114696000-114698400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:114696200-114698000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:114696400-114697400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:114696400-114698200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:114696400-114698400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:114696600-114699000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:114696800-114697000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:114696800-114697200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:114696800-114698200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:114697000-114697400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:114697000-114698400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:114697200-114697400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:114697200-114699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:114697400-114698000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:114697400-114698200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:114697400-114699000	Enhancers	Fetal Intestine Large	intestine
24	chr6:114697600-114698400	Enhancers	HepG2	liver
25	chr6:114698000-114698200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:114698000-114698400	Enhancers	Fetal Intestine Small	intestine
27	chr6:114698200-114699600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:114698200-114700200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:114698200-114705000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:114698200-114706000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:114698400-114699800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:114698400-114700200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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