Variant report

Variant	esv20291
Chromosome Location	chr6:54846098-54851665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 223 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563663366	chr6:54846098-54846099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11342972	chr6:54846130-54846131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71547982	chr6:54846150-54846151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537553873	chr6:54846154-54846155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3105255	chr6:54846167-54846168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550762339	chr6:54846228-54846229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567492316	chr6:54846241-54846242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73434445	chr6:54846270-54846271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553291794	chr6:54846278-54846279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573135773	chr6:54846286-54846287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183073705	chr6:54846308-54846309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538255519	chr6:54846321-54846322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558528651	chr6:54846332-54846333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3125262	chr6:54846337-54846338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187711371	chr6:54846371-54846372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192595426	chr6:54846378-54846379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573877537	chr6:54846393-54846394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542854098	chr6:54846398-54846399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369669814	chr6:54846415-54846416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559791848	chr6:54846423-54846424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559941675	chr6:54846441-54846442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150399820	chr6:54846456-54846457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34278737	chr6:54846500-54846501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552220644	chr6:54846510-54846511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184248246	chr6:54846527-54846528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530999391	chr6:54846545-54846546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553270022	chr6:54846583-54846584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116488483	chr6:54846606-54846607	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565549498	chr6:54846625-54846626	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567794714	chr6:54846728-54846729	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs76061475	chr6:54846739-54846740	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs11418714	chr6:54846897-54846898	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546822202	chr6:54846910-54846911	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189559631	chr6:54846974-54846975	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114810658	chr6:54847010-54847011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538727065	chr6:54847013-54847014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192691688	chr6:54847015-54847016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185039337	chr6:54847019-54847020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188577644	chr6:54847021-54847022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554231201	chr6:54847029-54847030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376806762	chr6:54847030-54847031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181399416	chr6:54847039-54847040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62416542	chr6:54847104-54847105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573424893	chr6:54847117-54847118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545706249	chr6:54847140-54847141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565468857	chr6:54847225-54847226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185929545	chr6:54847230-54847231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544661009	chr6:54847246-54847247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189218175	chr6:54847263-54847264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576732905	chr6:54847276-54847277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	21785460	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54845000-54847000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:54845400-54846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:54845400-54847200	Enhancers	HMEC	breast
4	chr6:54845400-54847200	Enhancers	NHEK	skin
5	chr6:54845600-54846200	Enhancers	Hela-S3	cervix
6	chr6:54845600-54846800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:54845600-54846800	Enhancers	NHLF	lung
8	chr6:54845600-54847000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:54845800-54847000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:54845800-54847000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:54846000-54846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:54846400-54846800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:54846400-54847000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:54846600-54847000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:54847000-54847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:54847200-54847600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:54847200-54847600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:54847600-54848000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:54847600-54848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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