Variant report

Variant	nsv981183
Chromosome Location	chr6:128959420-128961446
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	CEBPB	chr6:128959988-128960307	HepG2	liver:	n/a	chr6:128960140-128960151 chr6:128960138-128960149 chr6:128960140-128960149 chr6:128960203-128960212 chr6:128960138-128960151
2	CEBPB	chr6:128960008-128960251	Hela-S3	cervix:	n/a	chr6:128960140-128960151 chr6:128960138-128960149 chr6:128960140-128960149 chr6:128960203-128960212 chr6:128960138-128960151
3	CEBPB	chr6:128959985-128960295	A549	lung:	n/a	chr6:128960140-128960151 chr6:128960138-128960149 chr6:128960140-128960149 chr6:128960203-128960212 chr6:128960138-128960151
4	CEBPB	chr6:128959995-128960308	IMR90	lung:	n/a	chr6:128960140-128960151 chr6:128960138-128960149 chr6:128960140-128960149 chr6:128960203-128960212 chr6:128960138-128960151
5	FOS	chr6:128960064-128960214	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:128960111-128960322	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:128961242-128961553	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr6:128961190-128961537	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:128960070-128960210	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:128961211-128961552	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr6:128961194-128961476	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRK-2	chr6:128960333-128960798	NONHSAT114873

Variant related genes	Relation type
ENSG00000220110	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 95 )

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	rs138667547	chr6:128959425-128959426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372744305	chr6:128959484-128959485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539958059	chr6:128959501-128959502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142512113	chr6:128959574-128959575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145982884	chr6:128959579-128959580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530573455	chr6:128959590-128959591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138438981	chr6:128959591-128959592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569243627	chr6:128959597-128959598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530345148	chr6:128959607-128959608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548445744	chr6:128959634-128959635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566955607	chr6:128959635-128959636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552561487	chr6:128959661-128959662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564365270	chr6:128959665-128959666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60461500	chr6:128959730-128959731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189187163	chr6:128959742-128959743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562736550	chr6:128959791-128959792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538273056	chr6:128959810-128959811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181988047	chr6:128959823-128959824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372783959	chr6:128959824-128959825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546786827	chr6:128959832-128959833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111423595	chr6:128959853-128959854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554805846	chr6:128959859-128959860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572991730	chr6:128959880-128959881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57906240	chr6:128959889-128959890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372647250	chr6:128959891-128959892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111257113	chr6:128959898-128959899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564857363	chr6:128959936-128959937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576514535	chr6:128959941-128959942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75791565	chr6:128960100-128960101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543867975	chr6:128960108-128960109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191213356	chr6:128960169-128960170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568288144	chr6:128960206-128960207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529597664	chr6:128960212-128960213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181242396	chr6:128960277-128960278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370078768	chr6:128960281-128960282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3822946	chr6:128960308-128960309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186342081	chr6:128960321-128960322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552718166	chr6:128960339-128960340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs190261553	chr6:128960349-128960350	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570056931	chr6:128960362-128960363	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538359095	chr6:128960372-128960373	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs550249056	chr6:128960434-128960435	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs182940258	chr6:128960443-128960444	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs111490807	chr6:128960604-128960605	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs376945653	chr6:128960605-128960606	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs531643932	chr6:128960619-128960620	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs187578226	chr6:128960662-128960663	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs148394736	chr6:128960768-128960769	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs554614713	chr6:128960808-128960809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80196128	chr6:128960853-128960854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128952400-128962200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:128953400-128976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:128957000-128966400	Weak transcription	Fetal Heart	heart
4	chr6:128959000-128961800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:128960400-128960800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:128960400-128960800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:128960400-128961600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links