Variant report

Variant	esv3322676
Chromosome Location	chr6:117978059-117982357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117976462..117978203-chr6:117993552..117995244,2	K562	blood:
2	chr6:117976380..117977960-chr6:117980811..117982683,2	MCF-7	breast:
3	chr6:117976607..117978238-chr6:117987191..117988700,2	K562	blood:
4	chr6:117975355..117979268-chr6:117992487..117995744,5	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs564760785	chr6:117978067-117978068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377729640	chr6:117978098-117978099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79272894	chr6:117978295-117978296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375489079	chr6:117978335-117978336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374096336	chr6:117978340-117978341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568612857	chr6:117978375-117978376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529482062	chr6:117978393-117978394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527652363	chr6:117978413-117978414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545393861	chr6:117978440-117978441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551005418	chr6:117978487-117978488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148379490	chr6:117978564-117978565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539436089	chr6:117978575-117978576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557761572	chr6:117978631-117978632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371988912	chr6:117978632-117978633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141822146	chr6:117978642-117978643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567357592	chr6:117978681-117978682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534065112	chr6:117978725-117978726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189235641	chr6:117978726-117978727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369084326	chr6:117978737-117978738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544081474	chr6:117978757-117978758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147094434	chr6:117978797-117978798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577853652	chr6:117978817-117978818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545005096	chr6:117978828-117978829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111288613	chr6:117978860-117978861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551992550	chr6:117978864-117978865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374768645	chr6:117978865-117978866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568696229	chr6:117978874-117978875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568950571	chr6:117978928-117978929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562255670	chr6:117978938-117978939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550930773	chr6:117978940-117978941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562623462	chr6:117978990-117978991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200390833	chr6:117979036-117979037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143979158	chr6:117979044-117979045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150756639	chr6:117979048-117979049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137979448	chr6:117979056-117979057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566494132	chr6:117979081-117979082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111283494	chr6:117979109-117979110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557723044	chr6:117979110-117979111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549212802	chr6:117979123-117979124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567497593	chr6:117979193-117979194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192233021	chr6:117979273-117979274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543120804	chr6:117979293-117979294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542774327	chr6:117979307-117979308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149457659	chr6:117979326-117979327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577794199	chr6:117979357-117979358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112839700	chr6:117979436-117979437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75232365	chr6:117979476-117979477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73528117	chr6:117979477-117979478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183920602	chr6:117979499-117979500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373994777	chr6:117979501-117979502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117961600-117981800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:117962200-117985400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:117963400-117981800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:117969400-117995800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:117971800-117989800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:117973000-117990600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:117973800-117995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:117975200-117979800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:117975600-117986200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:117976600-117986400	Weak transcription	K562	blood
11	chr6:117978000-117995600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:117979400-117985600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:117979800-117980200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:117980200-117981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:117980800-117985600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:117981200-117983000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:117981800-117982600	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:117981800-117983000	Strong transcription	H1 Cell Line	embryonic stem cell

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