Variant report

Variant	esv3354537
Chromosome Location	chr6:141732459-141733807
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	chr6:141724021..141726766-chr6:141733635..141735399,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540534476	chr6:141732466-141732467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543369645	chr6:141732557-141732558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368937823	chr6:141732584-141732585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200240143	chr6:141732598-141732599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147539614	chr6:141732600-141732601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112201292	chr6:141732675-141732676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564732571	chr6:141732690-141732691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375772963	chr6:141732701-141732702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139114396	chr6:141732703-141732704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71021626	chr6:141732704-141732705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12195222	chr6:141732705-141732706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57291200	chr6:141732722-141732723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541318935	chr6:141732725-141732726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9321814	chr6:141732737-141732738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111372794	chr6:141732762-141732763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59873652	chr6:141732763-141732764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9321815	chr6:141732764-141732765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57910318	chr6:141732765-141732766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139155044	chr6:141732784-141732785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563769226	chr6:141732789-141732790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530918751	chr6:141732796-141732797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372276693	chr6:141732819-141732820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187502098	chr6:141732820-141732821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192641530	chr6:141732821-141732822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116255557	chr6:141732888-141732889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142457485	chr6:141732897-141732898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58649382	chr6:141732915-141732916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7738218	chr6:141732921-141732922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9399367	chr6:141733047-141733048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183392549	chr6:141733051-141733052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142746547	chr6:141733104-141733105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372847442	chr6:141733116-141733117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377094523	chr6:141733118-141733119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370068990	chr6:141733119-141733120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67265556	chr6:141733123-141733124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201360931	chr6:141733126-141733127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374555025	chr6:141733145-141733146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7738426	chr6:141733147-141733148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs71021627	chr6:141733148-141733149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188857330	chr6:141733205-141733206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558662059	chr6:141733232-141733233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576416571	chr6:141733235-141733236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373097352	chr6:141733257-141733258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376936060	chr6:141733310-141733311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553223608	chr6:141733318-141733319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144782100	chr6:141733330-141733331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192393513	chr6:141733361-141733362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9496014	chr6:141733389-141733390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112836684	chr6:141733393-141733394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540920050	chr6:141733398-141733399	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
Hodgkin''s lymphoma	18641027	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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141728200-141742800	Weak transcription	Psoas Muscle	Psoas
2	chr6:141728400-141733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:141730400-141747800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:141730600-141742000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:141732000-141736400	Weak transcription	Left Ventricle	heart
6	chr6:141732200-141734200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:141733600-141734200	Weak transcription	Fetal Heart	heart
8	chr6:141733800-141734800	Enhancers	Skeletal Muscle Male	skeletal muscle

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