Variant report

Variant	nsv521659
Chromosome Location	chr6:117950727-117955959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:117950257-117950745	HepG2	liver:	n/a	n/a
2	STAT3	chr6:117954896-117954974	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117951506..117953445-chr6:117960272..117964115,3	K562	blood:
2	chr6:117921339..117924676-chr6:117954310..117957194,3	MCF-7	breast:
3	chr6:117922238..117925071-chr6:117951173..117954790,3	K562	blood:

Variant related genes	Relation type
NEPNP	TF binding region
ENSG00000047932	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11961502	chr6:117950727-117950728	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113369284	chr6:117950730-117950731	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181177325	chr6:117950748-117950749	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374924298	chr6:117950766-117950767	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577001193	chr6:117950767-117950768	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541159557	chr6:117950815-117950816	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566869592	chr6:117950823-117950824	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185726322	chr6:117950954-117950955	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150776838	chr6:117950992-117950993	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548183781	chr6:117950993-117950994	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561380658	chr6:117950994-117950995	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531884620	chr6:117951005-117951006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139160662	chr6:117951007-117951008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571543207	chr6:117951077-117951078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143608223	chr6:117951125-117951126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190488213	chr6:117951127-117951128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147283214	chr6:117951153-117951154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536215102	chr6:117951154-117951155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554954135	chr6:117951163-117951164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140811908	chr6:117951289-117951290	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144620706	chr6:117951331-117951332	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544226963	chr6:117951408-117951409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562538814	chr6:117951420-117951421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558767312	chr6:117951425-117951426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577136595	chr6:117951459-117951460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541247381	chr6:117951460-117951461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559149469	chr6:117951502-117951503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574483712	chr6:117951604-117951605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563806949	chr6:117951633-117951634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs12665046	chr6:117951634-117951635	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs145684822	chr6:117951636-117951637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531868823	chr6:117951697-117951698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1501474	chr6:117951710-117951711	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs148591804	chr6:117951772-117951773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532535308	chr6:117951786-117951787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142990729	chr6:117951825-117951826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs151112438	chr6:117951832-117951833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529872684	chr6:117951904-117951905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12665080	chr6:117951941-117951942	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141371081	chr6:117951967-117951968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183184752	chr6:117951974-117951975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113863161	chr6:117951994-117951995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558861225	chr6:117952028-117952029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9285426	chr6:117952115-117952116	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374082865	chr6:117952161-117952162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372049041	chr6:117952164-117952165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534769505	chr6:117952176-117952177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553134855	chr6:117952232-117952233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192434398	chr6:117952237-117952238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529330456	chr6:117952327-117952328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
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
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
Epilepsy	22083797	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117943600-117951400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:117949400-117951000	Enhancers	Liver	Liver
3	chr6:117949800-117951000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:117950000-117950800	Enhancers	HepG2	liver
5	chr6:117950200-117950800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:117950800-117975000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:117955400-117960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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