Variant report

Variant	esv3340901
Chromosome Location	chr6:144529309-144531807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144521656..144524186-chr6:144530530..144532324,2	K562	blood:
2	chr6:144515219..144517320-chr6:144531063..144533998,2	K562	blood:
3	chr6:144531404..144534251-chr6:144536008..144537588,2	K562	blood:
4	chr6:144529710..144531964-chr6:144532893..144535500,2	K562	blood:
5	chr6:144528833..144531316-chr6:144534219..144536823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000217027	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558709215	chr6:144529330-144529331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145982415	chr6:144529348-144529349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111854123	chr6:144529349-144529350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187428530	chr6:144529385-144529386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574638185	chr6:144529404-144529405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191466986	chr6:144529450-144529451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6903349	chr6:144529453-144529454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182935000	chr6:144529462-144529463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528503293	chr6:144529463-144529464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545759167	chr6:144529508-144529509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563707677	chr6:144529538-144529539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572517190	chr6:144529581-144529582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539896678	chr6:144529665-144529666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116351254	chr6:144529706-144529707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75964568	chr6:144529712-144529713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564268663	chr6:144529767-144529768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533251086	chr6:144529780-144529781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12211395	chr6:144529804-144529805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370537149	chr6:144529805-144529806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186944947	chr6:144529809-144529810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190210476	chr6:144529812-144529813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570818746	chr6:144529826-144529827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2146171	chr6:144529863-144529864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547111863	chr6:144529865-144529866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2146170	chr6:144529877-144529878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2146169	chr6:144529881-144529882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116209996	chr6:144529888-144529889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148634962	chr6:144529924-144529925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367913913	chr6:144529949-144529950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539316075	chr6:144529953-144529954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557636799	chr6:144530029-144530030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569516592	chr6:144530052-144530053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58847604	chr6:144530090-144530091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368589505	chr6:144530100-144530101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535246490	chr6:144530110-144530111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539884747	chr6:144530167-144530168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558378153	chr6:144530178-144530179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182187890	chr6:144530201-144530202	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141963907	chr6:144530236-144530237	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs73585264	chr6:144530296-144530297	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563696540	chr6:144530314-144530315	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531143607	chr6:144530350-144530351	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532232907	chr6:144530365-144530366	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200200617	chr6:144530372-144530373	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552458827	chr6:144530389-144530390	Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552856568	chr6:144530457-144530458	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78382101	chr6:144530468-144530469	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4446579	chr6:144530480-144530481	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547048916	chr6:144530488-144530489	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554300108	chr6:144530527-144530528	Bivalent Enhancer 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
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
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
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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144522200-144530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:144530200-144530400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:144530200-144530600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:144530400-144536200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:144530800-144531000	Enhancers	Fetal Brain Female	brain
6	chr6:144531200-144534400	Weak transcription	Fetal Brain Female	brain

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