Variant report

Variant	esv3400100
Chromosome Location	chr6:55228042-55250271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs537063250	chr6:55233820-55233821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186863221	chr6:55233841-55233842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556909444	chr6:55233848-55233849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573931967	chr6:55233881-55233882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536789627	chr6:55233899-55233900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553185004	chr6:55233911-55233912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556036074	chr6:55233914-55233915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573042633	chr6:55233915-55233916	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374822329	chr6:55233926-55233927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369524884	chr6:55233933-55233934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371569779	chr6:55233939-55233940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575579644	chr6:55233945-55233946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544617575	chr6:55233946-55233947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544495289	chr6:55233948-55233949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560971702	chr6:55233962-55233963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140084900	chr6:55233964-55233965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369671398	chr6:55233965-55233966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149790933	chr6:55233968-55233969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540708647	chr6:55233981-55233982	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs373064691	chr6:55233990-55233991	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191700773	chr6:55233996-55233997	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551526606	chr6:55234012-55234013	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560429411	chr6:55234015-55234016	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537378553	chr6:55234019-55234020	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550977687	chr6:55234034-55234035	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145749459	chr6:55234050-55234051	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113706996	chr6:55234061-55234062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186075294	chr6:55234079-55234080	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190888834	chr6:55234082-55234083	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529109472	chr6:55234095-55234096	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148937720	chr6:55234102-55234103	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544556957	chr6:55234111-55234112	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561021315	chr6:55234112-55234113	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574377319	chr6:55234113-55234114	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182339856	chr6:55234122-55234123	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560208446	chr6:55234130-55234131	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532051118	chr6:55234145-55234146	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12111144	chr6:55234152-55234153	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527844531	chr6:55234159-55234160	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531002410	chr6:55234165-55234166	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187814988	chr6:55234172-55234173	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4712101	chr6:55234173-55234174	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536663184	chr6:55234177-55234178	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546646902	chr6:55234184-55234185	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566848552	chr6:55234201-55234202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539168320	chr6:55234204-55234205	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531470547	chr6:55234205-55234206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192756788	chr6:55234207-55234208	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11757181	chr6:55234217-55234218	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs146777368	chr6:55234218-55234219	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55233800-55234400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:55234000-55234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:55234000-55234400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:55234000-55234400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:55234600-55235000	Enhancers	Spleen	Spleen
6	chr6:55235000-55235400	Weak transcription	Spleen	Spleen
7	chr6:55235400-55235800	Enhancers	Spleen	Spleen
8	chr6:55248400-55248600	Enhancers	Fetal Lung	lung
9	chr6:55248600-55249600	Weak transcription	Fetal Lung	lung
10	chr6:55249600-55250200	Enhancers	Fetal Lung	lung

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