Variant report

Variant	nsv965789
Chromosome Location	chr6:167629479-167630665
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	chr6:167623779..167626117-chr6:167629928..167632260,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539162871	chr6:167629482-167629483	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs13204311	chr6:167629540-167629541	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572728777	chr6:167629560-167629561	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533825645	chr6:167629588-167629589	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191539986	chr6:167629598-167629599	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs9366108	chr6:167629638-167629639	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371936711	chr6:167629647-167629648	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9366109	chr6:167629650-167629651	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9348238	chr6:167629661-167629662	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372531498	chr6:167629686-167629687	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201076898	chr6:167629708-167629709	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs386708566	chr6:167629709-167629710	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs202103590	chr6:167629711-167629712	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373837984	chr6:167629722-167629723	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543018439	chr6:167629724-167629725	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs9356568	chr6:167629730-167629731	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529173261	chr6:167629737-167629738	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9356569	chr6:167629744-167629745	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145307663	chr6:167629773-167629774	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532987902	chr6:167629802-167629803	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10946235	chr6:167629803-167629804	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147912569	chr6:167629813-167629814	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141644056	chr6:167629814-167629815	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147050341	chr6:167629815-167629816	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567826835	chr6:167629823-167629824	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538521476	chr6:167629825-167629826	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs377293689	chr6:167629863-167629864	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1757115	chr6:167629901-167629902	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188157629	chr6:167629918-167629919	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs578213119	chr6:167629933-167629934	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7761102	chr6:167629936-167629937	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs1757116	chr6:167629938-167629939	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs62437188	chr6:167629947-167629948	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572507947	chr6:167629957-167629958	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542630215	chr6:167629962-167629963	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs9366112	chr6:167629992-167629993	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10946236	chr6:167630006-167630007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9366113	chr6:167630048-167630049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562489081	chr6:167630052-167630053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532921234	chr6:167630053-167630054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551556423	chr6:167630064-167630065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs542846844	chr6:167630089-167630090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs928348	chr6:167630110-167630111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs9366114	chr6:167630122-167630123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149427736	chr6:167630137-167630138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs548837192	chr6:167630140-167630141	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs567247028	chr6:167630147-167630148	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537884424	chr6:167630161-167630162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556889675	chr6:167630233-167630234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7761752	chr6:167630269-167630270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167624600-167632800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167625600-167630000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:167626200-167635000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:167626600-167631000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:167628000-167630400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:167628200-167637200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:167628200-167638600	Weak transcription	Fetal Brain Female	brain
8	chr6:167628800-167630400	Enhancers	Fetal Intestine Large	intestine
9	chr6:167629000-167630000	Enhancers	Fetal Intestine Small	intestine
10	chr6:167629000-167630400	Enhancers	Stomach Mucosa	stomach
11	chr6:167629000-167632400	Enhancers	Liver	Liver
12	chr6:167629200-167632200	Weak transcription	Fetal Brain Male	brain
13	chr6:167629400-167630000	Active TSS	HepG2	liver
14	chr6:167630000-167630200	Enhancers	Rectal Smooth Muscle	rectum
15	chr6:167630000-167630400	Flanking Active TSS	HepG2	liver
16	chr6:167630000-167635000	Weak transcription	Fetal Intestine Small	intestine
17	chr6:167630400-167632200	Weak transcription	Fetal Intestine Large	intestine
18	chr6:167630400-167633400	Enhancers	HepG2	liver
19	chr6:167630400-167637200	Weak transcription	Stomach Mucosa	stomach

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