Variant report

Variant	nsv970066
Chromosome Location	chr6:150813508-150814634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150812964..150816383-chr6:150817541..150822095,5	K562	blood:
2	chr6:150812081..150813728-chr6:150830490..150832623,2	MCF-7	breast:
3	chr6:150807751..150809812-chr6:150811234..150814298,3	K562	blood:

Variant related genes	Relation type
ENSG00000219622	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143244249	chr6:150813532-150813533	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs193091577	chr6:150813554-150813555	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146701147	chr6:150813569-150813570	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527694999	chr6:150813614-150813615	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77271502	chr6:150813655-150813656	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561615831	chr6:150813691-150813692	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563006506	chr6:150813726-150813727	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550143047	chr6:150813751-150813752	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34782866	chr6:150813758-150813759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78815231	chr6:150813768-150813769	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552268108	chr6:150813769-150813770	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184582515	chr6:150813823-150813824	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545325893	chr6:150813831-150813832	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534360658	chr6:150813836-150813837	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554131149	chr6:150813868-150813869	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577329409	chr6:150813885-150813886	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574424596	chr6:150813889-150813890	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537328662	chr6:150813900-150813901	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11755585	chr6:150813901-150813902	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576981480	chr6:150813935-150813936	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115115162	chr6:150813941-150813942	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371143677	chr6:150813956-150813957	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188023160	chr6:150813973-150813974	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572569844	chr6:150813974-150813975	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140322606	chr6:150813998-150813999	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142620973	chr6:150814014-150814015	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150997603	chr6:150814067-150814068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116902101	chr6:150814068-150814069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181272234	chr6:150814069-150814070	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546958071	chr6:150814099-150814100	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566935686	chr6:150814102-150814103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140881314	chr6:150814137-150814138	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78230274	chr6:150814184-150814185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139019230	chr6:150814189-150814190	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549442233	chr6:150814196-150814197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534395673	chr6:150814204-150814205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs185293335	chr6:150814210-150814211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567739152	chr6:150814211-150814212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs372087116	chr6:150814247-150814248	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536607437	chr6:150814252-150814253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11756098	chr6:150814335-150814336	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188985031	chr6:150814355-150814356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182146847	chr6:150814375-150814376	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553195684	chr6:150814410-150814411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572607290	chr6:150814456-150814457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79000706	chr6:150814457-150814458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186745796	chr6:150814477-150814478	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74670078	chr6:150814541-150814542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12191156	chr6:150814550-150814551	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75732159	chr6:150814567-150814568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150811200-150815800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:150811400-150813800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:150811400-150814000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:150811400-150814800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:150811400-150815000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:150811400-150815200	Enhancers	Fetal Muscle Leg	muscle
7	chr6:150811600-150813800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:150811800-150813600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:150811800-150814000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:150812000-150813600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr6:150812000-150814800	Enhancers	NH-A	brain
12	chr6:150812200-150813600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:150812200-150814200	Enhancers	Stomach Mucosa	stomach
14	chr6:150812400-150814800	Enhancers	HUVEC	blood vessel
15	chr6:150812600-150813800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:150812600-150813800	Enhancers	NHEK	skin
17	chr6:150812800-150813800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:150813000-150813600	Weak transcription	Gastric	stomach
19	chr6:150813000-150814000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:150813200-150813800	Weak transcription	Esophagus	oesophagus
21	chr6:150813200-150815200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:150813400-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr6:150813400-150814600	Flanking Active TSS	HMEC	breast
24	chr6:150813600-150813800	Enhancers	Small Intestine	intestine
25	chr6:150813800-150814000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:150813800-150814000	Enhancers	Gastric	stomach
27	chr6:150813800-150814200	Enhancers	Esophagus	oesophagus
28	chr6:150813800-150814200	Enhancers	Left Ventricle	heart
29	chr6:150813800-150814200	Flanking Active TSS	NHEK	skin
30	chr6:150813800-150814400	Enhancers	Fetal Muscle Trunk	muscle
31	chr6:150813800-150814400	Enhancers	Pancreas	Pancrea
32	chr6:150813800-150814800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:150813800-150815200	Enhancers	Right Ventricle	heart
34	chr6:150813800-150815200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:150814000-150814200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:150814000-150814400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:150814000-150814400	Enhancers	Colon Smooth Muscle	Colon
38	chr6:150814200-150814800	Enhancers	NHEK	skin
39	chr6:150814200-150815000	Weak transcription	Left Ventricle	heart
40	chr6:150814200-150815600	Enhancers	Adipose Nuclei	Adipose
41	chr6:150814600-150815400	Enhancers	HMEC	breast

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