Variant report

Variant	esv3504065
Chromosome Location	chr6:55903343-55913841
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: 366 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:366 , 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	rs569087355	chr6:55903373-55903374	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567961408	chr6:55903421-55903422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370616938	chr6:55903436-55903437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191492181	chr6:55903469-55903470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183155202	chr6:55903495-55903496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567088596	chr6:55903538-55903539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539209275	chr6:55903606-55903607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558784552	chr6:55903620-55903621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371761809	chr6:55903643-55903644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528736054	chr6:55903658-55903659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188186148	chr6:55903677-55903678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74565012	chr6:55903762-55903763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11965332	chr6:55903773-55903774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113435502	chr6:55903774-55903775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142870538	chr6:55903792-55903793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559980431	chr6:55903803-55903804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144261457	chr6:55903876-55903877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545555586	chr6:55903912-55903913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80293204	chr6:55903939-55903940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531481410	chr6:55903974-55903975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2745748	chr6:55904009-55904010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs561761088	chr6:55904017-55904018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527246724	chr6:55904035-55904036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547341689	chr6:55904039-55904040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148719310	chr6:55904061-55904062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549877797	chr6:55904116-55904117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111930896	chr6:55904158-55904159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376375550	chr6:55904189-55904190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569345920	chr6:55904224-55904225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553305930	chr6:55904285-55904286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141409401	chr6:55904293-55904294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192990346	chr6:55904305-55904306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573566208	chr6:55904337-55904338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542286216	chr6:55904378-55904379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150917176	chr6:55904435-55904436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140164116	chr6:55904448-55904449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184290334	chr6:55904497-55904498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114609742	chr6:55904522-55904523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562401437	chr6:55904553-55904554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531147734	chr6:55904597-55904598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35332600	chr6:55904611-55904612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9464332	chr6:55904620-55904621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534878689	chr6:55904623-55904624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576144588	chr6:55904680-55904681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370930424	chr6:55904691-55904692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541927221	chr6:55904741-55904742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561602193	chr6:55904743-55904744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145588270	chr6:55904748-55904749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547374472	chr6:55904773-55904774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187785500	chr6:55904915-55904916	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:124 , 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	chr6:55902000-55905000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:55902600-55903400	Enhancers	Osteobl	bone
6	chr6:55903000-55903400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:55903000-55903400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:55903200-55904200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:55903200-55904800	Weak transcription	Fetal Lung	lung
10	chr6:55903400-55903800	Weak transcription	Osteobl	bone
11	chr6:55903400-55905000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:55903800-55905400	Enhancers	Osteobl	bone
13	chr6:55904000-55904200	Enhancers	Hela-S3	cervix
14	chr6:55904000-55905000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:55904000-55906200	Enhancers	HSMM	muscle
16	chr6:55904200-55905000	Enhancers	HSMMtube	muscle
17	chr6:55904200-55905200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:55904200-55905200	Weak transcription	Hela-S3	cervix
19	chr6:55904800-55905000	Enhancers	Fetal Lung	lung
20	chr6:55904800-55905600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:55904800-55906000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:55905000-55905200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:55905000-55905200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr6:55905000-55905400	Flanking Active TSS	Fetal Lung	lung
25	chr6:55905000-55905400	Active TSS	HSMMtube	muscle
26	chr6:55905000-55905400	Enhancers	NH-A	brain
27	chr6:55905000-55905600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:55905000-55905600	Enhancers	NHEK	skin
29	chr6:55905000-55906200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:55905000-55906200	Enhancers	NHDF-Ad	bronchial
31	chr6:55905200-55905400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:55905200-55905400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:55905200-55905400	Enhancers	Hela-S3	cervix
34	chr6:55905200-55906200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:55905400-55905600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:55905400-55905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:55905400-55905600	Enhancers	Fetal Stomach	stomach
38	chr6:55905400-55905600	Flanking Active TSS	HSMMtube	muscle
39	chr6:55905400-55905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:55905400-55905800	Weak transcription	Hela-S3	cervix
41	chr6:55905400-55905800	Flanking Active TSS	Osteobl	bone
42	chr6:55905400-55906000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:55905400-55906000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr6:55905400-55906200	Enhancers	Fetal Lung	lung
45	chr6:55905600-55905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr6:55905600-55906000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:55905600-55906000	Active TSS	HSMMtube	muscle
48	chr6:55905600-55906200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:55905600-55906200	Enhancers	Ovary	ovary
50	chr6:55905600-55906400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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