Variant report

Variant	nsv969424
Chromosome Location	chr6:86136697-86137630
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	CTCF	chr6:86137229-86137366	LNCaP	prostate:	n/a	n/a
2	POLR2A	chr6:86136786-86136804	MCF-7	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX14-6	chr6:86136375-86136843	NONHSAT113835

Variant related genes	Relation type
DUTP5	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192414018	chr6:86136722-86136723	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs533004410	chr6:86136724-86136725	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140656244	chr6:86136739-86136740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185001366	chr6:86136812-86136813	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs548994985	chr6:86136813-86136814	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567310533	chr6:86136819-86136820	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537929433	chr6:86136825-86136826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs375732234	chr6:86136835-86136836	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs578100979	chr6:86136855-86136856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538873293	chr6:86136857-86136858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374184985	chr6:86136861-86136862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572406210	chr6:86136876-86136877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534506450	chr6:86136913-86136914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9344522	chr6:86136920-86136921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs560933426	chr6:86136949-86136950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571192037	chr6:86136961-86136962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576057018	chr6:86136964-86136965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543871236	chr6:86136969-86136970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190749094	chr6:86136982-86136983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180813617	chr6:86137010-86137011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147413796	chr6:86137019-86137020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561026838	chr6:86137031-86137032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186256952	chr6:86137034-86137035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527573178	chr6:86137060-86137061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141579460	chr6:86137100-86137101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549331902	chr6:86137145-86137146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536978084	chr6:86137164-86137165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567247198	chr6:86137226-86137227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531228305	chr6:86137276-86137277	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549810071	chr6:86137335-86137336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571261641	chr6:86137355-86137356	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189567293	chr6:86137362-86137363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs556998464	chr6:86137388-86137389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181218446	chr6:86137403-86137404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565969225	chr6:86137411-86137412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139629112	chr6:86137413-86137414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149910173	chr6:86137426-86137427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573944084	chr6:86137467-86137468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113402776	chr6:86137476-86137477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542665214	chr6:86137507-86137508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76052770	chr6:86137508-86137509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556302862	chr6:86137543-86137544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115142986	chr6:86137583-86137584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558963869	chr6:86137590-86137591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577263688	chr6:86137618-86137619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541579513	chr6:86137623-86137624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	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
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86129800-86157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:86132400-86145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:86137600-86139600	Enhancers	NHDF-Ad	bronchial

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