Variant report

Variant	esv3322589
Chromosome Location	chr6:142106059-142110557
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: 183 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs573478856	chr6:142106094-142106095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183980038	chr6:142106098-142106099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562711213	chr6:142106170-142106171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568193428	chr6:142106212-142106213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188362556	chr6:142106217-142106218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182014891	chr6:142106228-142106229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568028020	chr6:142106240-142106241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185040295	chr6:142106270-142106271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28414395	chr6:142106283-142106284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190719933	chr6:142106298-142106299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144192500	chr6:142106370-142106371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114448885	chr6:142106420-142106421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550215115	chr6:142106421-142106422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80276061	chr6:142106422-142106423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75921704	chr6:142106424-142106425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570210559	chr6:142106425-142106426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149505669	chr6:142106428-142106429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540699148	chr6:142106430-142106431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143112962	chr6:142106440-142106441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77628623	chr6:142106441-142106442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544158261	chr6:142106459-142106460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148247643	chr6:142106464-142106465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530688078	chr6:142106473-142106474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182002397	chr6:142106492-142106493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564291473	chr6:142106494-142106495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528305335	chr6:142106526-142106527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141306826	chr6:142106552-142106553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78789404	chr6:142106572-142106573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533424177	chr6:142106573-142106574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375580036	chr6:142106682-142106683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576856573	chr6:142106694-142106695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550551723	chr6:142106736-142106737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532831702	chr6:142106740-142106741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568895829	chr6:142106750-142106751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540119719	chr6:142106761-142106762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368576950	chr6:142106772-142106773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185447569	chr6:142106776-142106777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567049894	chr6:142106785-142106786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371341292	chr6:142106812-142106813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60414164	chr6:142106822-142106823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189807574	chr6:142106832-142106833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529482202	chr6:142106834-142106835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544321770	chr6:142106844-142106845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12203499	chr6:142106915-142106916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577651074	chr6:142106973-142106974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545670522	chr6:142107002-142107003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564271781	chr6:142107052-142107053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532728609	chr6:142107079-142107080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528281755	chr6:142107093-142107094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181418171	chr6:142107096-142107097	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	chr6:142105400-142108800	Weak transcription	Liver	Liver
2	chr6:142106200-142107000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:142106600-142107200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:142106600-142107400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:142106800-142107200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:142106800-142107200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:142107200-142111800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:142107200-142112200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:142107400-142111800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:142108800-142109400	Enhancers	Liver	Liver
11	chr6:142109200-142110000	Enhancers	HepG2	liver
12	chr6:142109400-142109800	Flanking Active TSS	Liver	Liver
13	chr6:142109800-142110000	Enhancers	Liver	Liver

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