Variant report

Variant	esv12451
Chromosome Location	chr6:142110591-142114931
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	chr6:141998460..141999421-chr6:142110108..142110780,4	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552497916	chr6:142110605-142110606	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564347245	chr6:142110646-142110647	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551581124	chr6:142110703-142110704	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146411927	chr6:142110729-142110730	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs374206088	chr6:142110741-142110742	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547411279	chr6:142110752-142110753	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12210846	chr6:142110766-142110767	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534265187	chr6:142110796-142110797	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565790823	chr6:142110855-142110856	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553889044	chr6:142110876-142110877	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573933865	chr6:142110921-142110922	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536091691	chr6:142110943-142110944	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs547987361	chr6:142110949-142110950	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181231245	chr6:142110967-142110968	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs368387894	chr6:142110970-142110971	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7450452	chr6:142111017-142111018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534707536	chr6:142111029-142111030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187149079	chr6:142111043-142111044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535304105	chr6:142111046-142111047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142680110	chr6:142111139-142111140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375764024	chr6:142111176-142111177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542401525	chr6:142111202-142111203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563876204	chr6:142111269-142111270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576314895	chr6:142111302-142111303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9496142	chr6:142111329-142111330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145931958	chr6:142111354-142111355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369660339	chr6:142111403-142111404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547669694	chr6:142111416-142111417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376029480	chr6:142111421-142111422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559265671	chr6:142111448-142111449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529938268	chr6:142111506-142111507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9484552	chr6:142111531-142111532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537129865	chr6:142111554-142111555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552021943	chr6:142111592-142111593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375652660	chr6:142111642-142111643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370989088	chr6:142111643-142111644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534367702	chr6:142111689-142111690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191578366	chr6:142111723-142111724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568730019	chr6:142111761-142111762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536170423	chr6:142111771-142111772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148612009	chr6:142111786-142111787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575936682	chr6:142111831-142111832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577677292	chr6:142111861-142111862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141181209	chr6:142111940-142111941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558008777	chr6:142111942-142111943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559164204	chr6:142111965-142111966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540225470	chr6:142112025-142112026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575909781	chr6:142112045-142112046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150755259	chr6:142112063-142112064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34142348	chr6:142112066-142112067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142107200-142111800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:142107200-142112200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:142107400-142111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:142110600-142110800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:142110600-142111000	ZNF genes & repeats	Pancreas	Pancrea
6	chr6:142110800-142111000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:142111000-142111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:142111800-142112600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:142111800-142112600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:142111800-142112800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:142112200-142112600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:142112200-142112600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:142112800-142115400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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