Variant report

Variant	esv2761030
Chromosome Location	chr6:55905141-55906949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55904181..55905774-chr6:55908809..55911144,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9475540	chr6:55905141-55905142	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566889141	chr6:55905188-55905189	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114976549	chr6:55905190-55905191	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539757685	chr6:55905195-55905196	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373734465	chr6:55905207-55905208	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149694068	chr6:55905276-55905277	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189030174	chr6:55905292-55905293	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145492102	chr6:55905305-55905306	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549157435	chr6:55905322-55905323	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555508701	chr6:55905336-55905337	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs180828933	chr6:55905352-55905353	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148835602	chr6:55905406-55905407	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184885288	chr6:55905409-55905410	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532941678	chr6:55905435-55905436	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538149158	chr6:55905449-55905450	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368111383	chr6:55905457-55905458	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546491914	chr6:55905484-55905485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576867903	chr6:55905514-55905515	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531935689	chr6:55905552-55905553	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374378604	chr6:55905593-55905594	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548541551	chr6:55905637-55905638	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs142510481	chr6:55905656-55905657	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs28564378	chr6:55905666-55905667	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9475541	chr6:55905697-55905698	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547470699	chr6:55905780-55905781	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34186453	chr6:55905784-55905785	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570530781	chr6:55905804-55905805	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573220255	chr6:55905831-55905832	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539425458	chr6:55905854-55905855	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371879134	chr6:55905856-55905857	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569813274	chr6:55905908-55905909	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559657438	chr6:55905927-55905928	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs181630051	chr6:55905988-55905989	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7749409	chr6:55906006-55906007	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs5876483	chr6:55906075-55906076	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398001661	chr6:55906076-55906077	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572245618	chr6:55906097-55906098	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541159613	chr6:55906115-55906116	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367571830	chr6:55906185-55906186	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577588380	chr6:55906195-55906196	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533780992	chr6:55906205-55906206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9475542	chr6:55906240-55906241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563204450	chr6:55906241-55906242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531959793	chr6:55906291-55906292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34209240	chr6:55906312-55906313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185913335	chr6:55906317-55906318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62406118	chr6:55906330-55906331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527847575	chr6:55906353-55906354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547510668	chr6:55906392-55906393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191124094	chr6:55906412-55906413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55898800-55905400	Weak transcription	Fetal Stomach	stomach
2	chr6:55899200-55920400	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:55903800-55905400	Enhancers	Osteobl	bone
4	chr6:55904000-55906200	Enhancers	HSMM	muscle
5	chr6:55904200-55905200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:55904200-55905200	Weak transcription	Hela-S3	cervix
7	chr6:55904800-55905600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:55904800-55906000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:55905000-55905200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:55905000-55905200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:55905000-55905400	Flanking Active TSS	Fetal Lung	lung
12	chr6:55905000-55905400	Active TSS	HSMMtube	muscle
13	chr6:55905000-55905400	Enhancers	NH-A	brain
14	chr6:55905000-55905600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:55905000-55905600	Enhancers	NHEK	skin
16	chr6:55905000-55906200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:55905000-55906200	Enhancers	NHDF-Ad	bronchial
18	chr6:55905200-55905400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:55905200-55905400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:55905200-55905400	Enhancers	Hela-S3	cervix
21	chr6:55905200-55906200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:55905400-55905600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:55905400-55905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:55905400-55905600	Enhancers	Fetal Stomach	stomach
25	chr6:55905400-55905600	Flanking Active TSS	HSMMtube	muscle
26	chr6:55905400-55905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:55905400-55905800	Weak transcription	Hela-S3	cervix
28	chr6:55905400-55905800	Flanking Active TSS	Osteobl	bone
29	chr6:55905400-55906000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:55905400-55906000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:55905400-55906200	Enhancers	Fetal Lung	lung
32	chr6:55905600-55905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr6:55905600-55906000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:55905600-55906000	Active TSS	HSMMtube	muscle
35	chr6:55905600-55906200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:55905600-55906200	Enhancers	Ovary	ovary
37	chr6:55905600-55906400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:55905800-55906200	Enhancers	Aorta	Aorta
39	chr6:55905800-55906200	Enhancers	Hela-S3	cervix
40	chr6:55905800-55906400	Enhancers	Osteobl	bone
41	chr6:55905800-55911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:55906000-55906200	Flanking Active TSS	HSMMtube	muscle
43	chr6:55906000-55906400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:55906200-55906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:55906200-55906400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:55906200-55908000	Weak transcription	HSMM	muscle
47	chr6:55906200-55908400	Weak transcription	NHDF-Ad	bronchial
48	chr6:55906200-55910800	Weak transcription	HSMMtube	muscle
49	chr6:55906400-55907400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:55906400-55907800	Weak transcription	Muscle Satellite Cultured Cells	--

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