Variant report

Variant	esv3338268
Chromosome Location	chr6:114627109-114628257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574369520	chr6:114627121-114627122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542485997	chr6:114627142-114627143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181530612	chr6:114627151-114627152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186313861	chr6:114627183-114627184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35155402	chr6:114627243-114627244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573224895	chr6:114627249-114627250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191206019	chr6:114627250-114627251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564350343	chr6:114627330-114627331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540390740	chr6:114627343-114627344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182350699	chr6:114627380-114627381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7741008	chr6:114627387-114627388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199506756	chr6:114627402-114627403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111510264	chr6:114627419-114627420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1765047	chr6:114627420-114627421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71028404	chr6:114627421-114627422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7759130	chr6:114627422-114627423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199644018	chr6:114627424-114627425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11965667	chr6:114627442-114627443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532519086	chr6:114627443-114627444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34094555	chr6:114627467-114627468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535518094	chr6:114627495-114627496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541554860	chr6:114627500-114627501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548496031	chr6:114627518-114627519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34729937	chr6:114627538-114627539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570014954	chr6:114627546-114627547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138963301	chr6:114627641-114627642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558742600	chr6:114627681-114627682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74762347	chr6:114627683-114627684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77868681	chr6:114627687-114627688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566484065	chr6:114627692-114627693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73542399	chr6:114627718-114627719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142187606	chr6:114627727-114627728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570730785	chr6:114627759-114627760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150532103	chr6:114627775-114627776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139532063	chr6:114627875-114627876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575484716	chr6:114628053-114628054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs785144	chr6:114628139-114628140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:115)

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
Chronic lymphocytic leukemia	20421269	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
low-grade B-cell lymphoma tumor	18367492	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	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
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114617800-114630000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:114619000-114635000	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:114625400-114635400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:114625600-114628000	Weak transcription	HSMM	muscle
5	chr6:114626000-114627200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr6:114626200-114627200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr6:114627000-114627400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:114627000-114627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:114627000-114634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:114627200-114627800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:114627200-114637000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:114628000-114628400	Enhancers	HepG2	liver

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