Variant report

Variant	esv3361508
Chromosome Location	chr6:164319322-164320278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164319581..164321421-chr6:164323668..164325756,2	MCF-7	breast:
2	chr6:164319743..164322361-chr6:164322786..164324290,2	K562	blood:
3	chr6:164130686..164133462-chr6:164319351..164322024,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372224586	chr6:164319330-164319331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150514827	chr6:164319348-164319349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9458928	chr6:164319353-164319354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs578142508	chr6:164319372-164319373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13191584	chr6:164319394-164319395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9295244	chr6:164319412-164319413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139450459	chr6:164319457-164319458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79633578	chr6:164319464-164319465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190095393	chr6:164319494-164319495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547650687	chr6:164319512-164319513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559783185	chr6:164319582-164319583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566381581	chr6:164319589-164319590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139190460	chr6:164319597-164319598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149702397	chr6:164319624-164319625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9295245	chr6:164319708-164319709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375171459	chr6:164319709-164319710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552155947	chr6:164319756-164319757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550535075	chr6:164319766-164319767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144491736	chr6:164319801-164319802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9295246	chr6:164319819-164319820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546449432	chr6:164319829-164319830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9295247	chr6:164319835-164319836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181667606	chr6:164319859-164319860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553967498	chr6:164319868-164319869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558507045	chr6:164319875-164319876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148891821	chr6:164319879-164319880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28414112	chr6:164319881-164319882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10632133	chr6:164319896-164319897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34083257	chr6:164319897-164319898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537939719	chr6:164319908-164319909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372172180	chr6:164319909-164319910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73024926	chr6:164319912-164319913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557317266	chr6:164319921-164319922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9791331	chr6:164319929-164319930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376884063	chr6:164319940-164319941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189556528	chr6:164319953-164319954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16895510	chr6:164319963-164319964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs555937719	chr6:164319990-164319991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117362589	chr6:164320036-164320037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7757598	chr6:164320109-164320110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs386708192	chr6:164320119-164320120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578090728	chr6:164320120-164320121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12196796	chr6:164320160-164320161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551007460	chr6:164320161-164320162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79201024	chr6:164320195-164320196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17443648	chr6:164320206-164320207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181403733	chr6:164320219-164320220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374868544	chr6:164320232-164320233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555471622	chr6:164320257-164320258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113387279	chr6:164320258-164320259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164318400-164321800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:164318400-164322000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:164318600-164321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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