Variant report

Variant	esv17031
Chromosome Location	chr6:101381140-101384880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101379567..101381723-chr6:101382355..101385002,3	K562	blood:
2	chr6:101328441..101330264-chr6:101378737..101381501,2	MCF-7	breast:
3	chr6:101379567..101381723-chr6:101382355..101385002,3	K562	blood:

Variant related genes	Relation type
ENSG00000260000	chromatin interactions
ENSG00000112249	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373768127	chr6:101381150-101381151	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs553045403	chr6:101381156-101381157	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79405071	chr6:101381157-101381158	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566823367	chr6:101381164-101381165	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527800689	chr6:101381181-101381182	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538631575	chr6:101381184-101381185	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552736061	chr6:101381197-101381198	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574667706	chr6:101381222-101381223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190770578	chr6:101381256-101381257	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182595309	chr6:101381290-101381291	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs78806851	chr6:101381361-101381362	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558556684	chr6:101381377-101381378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568740512	chr6:101381384-101381385	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372286422	chr6:101381434-101381435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575505293	chr6:101381444-101381445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535080493	chr6:101381495-101381496	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553747739	chr6:101381518-101381519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564006870	chr6:101381524-101381525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544594739	chr6:101381527-101381528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80083721	chr6:101381583-101381584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545470969	chr6:101381617-101381618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530498751	chr6:101381624-101381625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557478123	chr6:101381655-101381656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142964534	chr6:101381727-101381728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187053989	chr6:101381728-101381729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561785433	chr6:101381746-101381747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573901467	chr6:101381785-101381786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145392677	chr6:101381924-101381925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71766568	chr6:101381945-101381946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202070890	chr6:101381947-101381948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57551233	chr6:101381969-101381970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58785369	chr6:101381970-101381971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541823797	chr6:101382021-101382022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369383365	chr6:101382043-101382044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574939214	chr6:101382051-101382052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191827107	chr6:101382083-101382084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113507340	chr6:101382104-101382105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576445797	chr6:101382105-101382106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376316476	chr6:101382134-101382135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552699211	chr6:101382201-101382202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78759475	chr6:101382266-101382267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531896269	chr6:101382274-101382275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57454377	chr6:101382288-101382289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568627676	chr6:101382330-101382331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536134421	chr6:101382338-101382339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532281610	chr6:101382397-101382398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182636840	chr6:101382398-101382399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9485427	chr6:101382444-101382445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs4270794	chr6:101382477-101382478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9485428	chr6:101382581-101382582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
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
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	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	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101374600-101398000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:101381000-101381200	ZNF genes & repeats	Aorta	Aorta

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