Variant report

Variant	nsv966635
Chromosome Location	chr6:151018787-151025050
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	chr6:151005271..151008219-chr6:151020756..151022583,2	K562	blood:
2	chr6:150856840..150859421-chr6:151018731..151021434,2	MCF-7	breast:

Extended variants
information (count: 307 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572533048	chr6:151018872-151018873	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541541075	chr6:151018874-151018875	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6940540	chr6:151018909-151018910	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574537232	chr6:151018938-151018939	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559272850	chr6:151018943-151018944	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543638776	chr6:151018998-151018999	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372565118	chr6:151019060-151019061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs67973235	chr6:151019062-151019063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376613878	chr6:151019070-151019071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200840003	chr6:151019071-151019072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367979562	chr6:151019072-151019073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201018644	chr6:151019073-151019074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201428119	chr6:151019075-151019076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2345746	chr6:151019080-151019081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2345747	chr6:151019083-151019084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80169451	chr6:151019084-151019085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1552889	chr6:151019278-151019279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7775405	chr6:151019287-151019288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1552888	chr6:151019313-151019314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191275840	chr6:151019359-151019360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532490472	chr6:151019385-151019386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183521018	chr6:151019392-151019393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140298040	chr6:151019400-151019401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536424039	chr6:151019415-151019416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550370184	chr6:151019421-151019422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570218159	chr6:151019451-151019452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111818611	chr6:151019473-151019474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78541874	chr6:151019513-151019514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372620331	chr6:151019515-151019516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572468353	chr6:151019535-151019536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187350841	chr6:151019536-151019537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192544322	chr6:151019545-151019546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74912835	chr6:151019546-151019547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139117416	chr6:151019586-151019587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76154200	chr6:151019622-151019623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1552887	chr6:151019625-151019626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201956897	chr6:151019633-151019634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200256876	chr6:151019635-151019636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs66635945	chr6:151019636-151019637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12183944	chr6:151019637-151019638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12183945	chr6:151019639-151019640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386408927	chr6:151019642-151019643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3072714	chr6:151019645-151019646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116556962	chr6:151019646-151019647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115792340	chr6:151019647-151019648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577015904	chr6:151019705-151019706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5880893	chr6:151019711-151019712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397943955	chr6:151019713-151019714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371223123	chr6:151019714-151019715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs118135051	chr6:151019722-151019723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151009000-151021200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:151012200-151023800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:151013000-151020600	Enhancers	Primary B cells from cord blood	blood
4	chr6:151014600-151021000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:151015000-151020600	Weak transcription	Left Ventricle	heart
6	chr6:151015200-151033200	Weak transcription	Right Atrium	heart
7	chr6:151015400-151018800	Weak transcription	GM12878-XiMat	blood
8	chr6:151015400-151025600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:151016800-151019400	Enhancers	Brain Substantia Nigra	brain
10	chr6:151017000-151018800	Enhancers	Adipose Nuclei	Adipose
11	chr6:151017200-151018800	Enhancers	Fetal Muscle Leg	muscle
12	chr6:151017200-151019000	Enhancers	Fetal Stomach	stomach
13	chr6:151017400-151019000	Genic enhancers	Thymus	Thymus
14	chr6:151017400-151020600	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:151017600-151018800	Strong transcription	Fetal Thymus	thymus
16	chr6:151017600-151023800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:151017600-151029200	Weak transcription	Lung	lung
18	chr6:151017800-151025200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:151017800-151025600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:151017800-151027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:151018200-151019000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:151018200-151019000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:151018200-151019000	Enhancers	Spleen	Spleen
24	chr6:151018200-151019200	Enhancers	Small Intestine	intestine
25	chr6:151018200-151019600	Enhancers	Liver	Liver
26	chr6:151018400-151018800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:151018400-151018800	Enhancers	Placenta	Placenta
28	chr6:151018400-151019000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:151018400-151019000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:151018400-151019000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:151018400-151019000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:151018400-151019000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:151018400-151019000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:151018400-151019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:151018600-151018800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:151018600-151019000	Enhancers	Ovary	ovary
37	chr6:151018600-151021200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:151018800-151019000	Enhancers	GM12878-XiMat	blood
39	chr6:151018800-151020600	Weak transcription	Fetal Muscle Leg	muscle
40	chr6:151018800-151023800	Weak transcription	Fetal Thymus	thymus
41	chr6:151018800-151024000	Weak transcription	Placenta	Placenta
42	chr6:151018800-151028600	Weak transcription	Adipose Nuclei	Adipose
43	chr6:151019000-151020400	Weak transcription	Spleen	Spleen
44	chr6:151019000-151021200	Weak transcription	Fetal Stomach	stomach
45	chr6:151019000-151021400	Weak transcription	Thymus	Thymus
46	chr6:151019000-151033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:151019000-151033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:151019000-151035200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:151019400-151023600	Weak transcription	Brain Substantia Nigra	brain
50	chr6:151019600-151019800	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links