Variant report

Variant	esv3439651
Chromosome Location	chr6:48948593-48952891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 288 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568644024	chr6:48948614-48948615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535873538	chr6:48948635-48948636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72863654	chr6:48948646-48948647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566927837	chr6:48948676-48948677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529511913	chr6:48948687-48948688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187127297	chr6:48948701-48948702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112499844	chr6:48948779-48948780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558254082	chr6:48948898-48948899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549592910	chr6:48948911-48948912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71713061	chr6:48948934-48948935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150856685	chr6:48948943-48948944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74957311	chr6:48948963-48948964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4711923	chr6:48949003-48949004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573849935	chr6:48949034-48949035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144444547	chr6:48949044-48949045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376120450	chr6:48949075-48949076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558932187	chr6:48949077-48949078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557496736	chr6:48949092-48949093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577169481	chr6:48949096-48949097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544727017	chr6:48949097-48949098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182620509	chr6:48949103-48949104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571242393	chr6:48949117-48949118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531966487	chr6:48949125-48949126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550087460	chr6:48949127-48949128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562454445	chr6:48949142-48949143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146634830	chr6:48949212-48949213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533521133	chr6:48949220-48949221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566099481	chr6:48949232-48949233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539806631	chr6:48949247-48949248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115280262	chr6:48949288-48949289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570140868	chr6:48949303-48949304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9463449	chr6:48949311-48949312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537297770	chr6:48949328-48949329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573356215	chr6:48949334-48949335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529358755	chr6:48949351-48949352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573738204	chr6:48949367-48949368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368444531	chr6:48949497-48949498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115196855	chr6:48949499-48949500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115881436	chr6:48949530-48949531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141380118	chr6:48949557-48949558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372824955	chr6:48949576-48949577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78988116	chr6:48949579-48949580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143912334	chr6:48949607-48949608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111843382	chr6:48949627-48949628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111618458	chr6:48949644-48949645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538464295	chr6:48949650-48949651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111260788	chr6:48949654-48949655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562155179	chr6:48949657-48949658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145443627	chr6:48949658-48949659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541760139	chr6:48949687-48949688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48947000-48951000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:48951000-48951200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:48951200-48957400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:48952400-48952800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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