Variant report

Variant	esv3504061
Chromosome Location	chr6:55902893-55913891
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:
2	chr6:55904181..55905774-chr6:55908809..55911144,2	MCF-7	breast:

Extended variants
information (count: 390 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537813035	chr6:55902906-55902907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557374692	chr6:55902916-55902917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567908199	chr6:55902987-55902988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535355763	chr6:55903002-55903003	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536536057	chr6:55903042-55903043	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566819485	chr6:55903079-55903080	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573594921	chr6:55903112-55903113	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142611181	chr6:55903115-55903116	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545554507	chr6:55903148-55903149	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559061281	chr6:55903192-55903193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182314662	chr6:55903196-55903197	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7772166	chr6:55903243-55903244	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561032630	chr6:55903247-55903248	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187512712	chr6:55903251-55903252	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540133491	chr6:55903264-55903265	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559610761	chr6:55903270-55903271	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144755072	chr6:55903286-55903287	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138356047	chr6:55903327-55903328	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568889556	chr6:55903328-55903329	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542900573	chr6:55903330-55903331	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555622168	chr6:55903331-55903332	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569087355	chr6:55903373-55903374	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567961408	chr6:55903421-55903422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370616938	chr6:55903436-55903437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191492181	chr6:55903469-55903470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183155202	chr6:55903495-55903496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567088596	chr6:55903538-55903539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539209275	chr6:55903606-55903607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558784552	chr6:55903620-55903621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371761809	chr6:55903643-55903644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528736054	chr6:55903658-55903659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188186148	chr6:55903677-55903678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74565012	chr6:55903762-55903763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11965332	chr6:55903773-55903774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113435502	chr6:55903774-55903775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142870538	chr6:55903792-55903793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559980431	chr6:55903803-55903804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144261457	chr6:55903876-55903877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545555586	chr6:55903912-55903913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80293204	chr6:55903939-55903940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531481410	chr6:55903974-55903975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2745748	chr6:55904009-55904010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs561761088	chr6:55904017-55904018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527246724	chr6:55904035-55904036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547341689	chr6:55904039-55904040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148719310	chr6:55904061-55904062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549877797	chr6:55904116-55904117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111930896	chr6:55904158-55904159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376375550	chr6:55904189-55904190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569345920	chr6:55904224-55904225	Enhancers Weak transcription	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55898800-55905400	Weak transcription	Fetal Stomach	stomach
2	chr6:55899000-55904200	Weak transcription	HSMMtube	muscle
3	chr6:55899200-55920400	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:55901800-55903000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:55902000-55903200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:55902000-55905000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:55902600-55903400	Enhancers	Osteobl	bone
8	chr6:55902800-55903200	Enhancers	Fetal Lung	lung
9	chr6:55903000-55903400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:55903000-55903400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:55903200-55904200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:55903200-55904800	Weak transcription	Fetal Lung	lung
13	chr6:55903400-55903800	Weak transcription	Osteobl	bone
14	chr6:55903400-55905000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:55903800-55905400	Enhancers	Osteobl	bone
16	chr6:55904000-55904200	Enhancers	Hela-S3	cervix
17	chr6:55904000-55905000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:55904000-55906200	Enhancers	HSMM	muscle
19	chr6:55904200-55905000	Enhancers	HSMMtube	muscle
20	chr6:55904200-55905200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:55904200-55905200	Weak transcription	Hela-S3	cervix
22	chr6:55904800-55905000	Enhancers	Fetal Lung	lung
23	chr6:55904800-55905600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:55904800-55906000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:55905000-55905200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:55905000-55905200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:55905000-55905400	Flanking Active TSS	Fetal Lung	lung
28	chr6:55905000-55905400	Active TSS	HSMMtube	muscle
29	chr6:55905000-55905400	Enhancers	NH-A	brain
30	chr6:55905000-55905600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:55905000-55905600	Enhancers	NHEK	skin
32	chr6:55905000-55906200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:55905000-55906200	Enhancers	NHDF-Ad	bronchial
34	chr6:55905200-55905400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:55905200-55905400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:55905200-55905400	Enhancers	Hela-S3	cervix
37	chr6:55905200-55906200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:55905400-55905600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:55905400-55905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr6:55905400-55905600	Enhancers	Fetal Stomach	stomach
41	chr6:55905400-55905600	Flanking Active TSS	HSMMtube	muscle
42	chr6:55905400-55905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:55905400-55905800	Weak transcription	Hela-S3	cervix
44	chr6:55905400-55905800	Flanking Active TSS	Osteobl	bone
45	chr6:55905400-55906000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:55905400-55906000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr6:55905400-55906200	Enhancers	Fetal Lung	lung
48	chr6:55905600-55905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr6:55905600-55906000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:55905600-55906000	Active TSS	HSMMtube	muscle

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