Variant report

Variant	nsv528901
Chromosome Location	chr6:54290333-54337130
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	chr6:54334351..54336130-chr6:54337919..54340373,2	MCF-7	breast:

Extended variants
information (count: 773 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9357804	chr6:54290333-54290334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201927158	chr6:54290355-54290356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188654444	chr6:54290361-54290362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568939733	chr6:54290399-54290400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191711147	chr6:54290400-54290401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554698879	chr6:54290402-54290403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9474865	chr6:54290404-54290405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368937855	chr6:54290406-54290407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542685383	chr6:54290415-54290416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75427841	chr6:54290432-54290433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76339249	chr6:54290483-54290484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562498536	chr6:54290524-54290525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142371603	chr6:54290534-54290535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376222103	chr6:54290537-54290538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573380705	chr6:54290562-54290563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576681757	chr6:54290591-54290592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561031701	chr6:54290636-54290637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530067400	chr6:54290647-54290648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546651146	chr6:54290648-54290649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560853108	chr6:54290653-54290654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532651714	chr6:54290661-54290662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184003832	chr6:54290690-54290691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569395332	chr6:54290699-54290700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548645350	chr6:54290771-54290772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538430570	chr6:54290812-54290813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146343419	chr6:54290827-54290828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568139510	chr6:54290830-54290831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188651473	chr6:54290831-54290832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192592319	chr6:54290843-54290844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542391193	chr6:54290857-54290858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558134254	chr6:54290860-54290861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377612131	chr6:54290862-54290863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183467022	chr6:54290885-54290886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186689626	chr6:54290889-54290890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555824661	chr6:54290892-54290893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368606217	chr6:54290948-54290949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369523899	chr6:54290967-54290968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556415054	chr6:54291020-54291021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575868980	chr6:54291023-54291024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112895018	chr6:54291085-54291086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527933433	chr6:54291097-54291098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191648485	chr6:54291098-54291099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541626558	chr6:54291124-54291125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184957893	chr6:54291162-54291163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147965007	chr6:54291212-54291213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552633209	chr6:54291227-54291228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564236723	chr6:54291232-54291233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533015596	chr6:54291241-54291242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531968938	chr6:54291267-54291268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190151906	chr6:54291282-54291283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54284600-54292000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:54285200-54291400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:54285600-54291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:54291200-54293800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:54291400-54292800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:54291600-54293200	Enhancers	GM12878-XiMat	blood
7	chr6:54291600-54293600	Enhancers	NHEK	skin
8	chr6:54291600-54296200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:54291800-54293600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:54291800-54293600	Enhancers	Osteobl	bone
11	chr6:54291800-54294600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:54292000-54292200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:54292000-54292800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:54292000-54293000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:54292000-54293000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:54292000-54293000	Enhancers	HMEC	breast
17	chr6:54292000-54293000	Enhancers	NH-A	brain
18	chr6:54292000-54293000	Enhancers	NHDF-Ad	bronchial
19	chr6:54292000-54297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:54292200-54295600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:54293000-54294200	Weak transcription	NHDF-Ad	bronchial
22	chr6:54293000-54296200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:54293200-54293400	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:54293400-54293800	Enhancers	Fetal Kidney	kidney
25	chr6:54293400-54294400	Enhancers	GM12878-XiMat	blood
26	chr6:54293600-54296000	Weak transcription	Osteobl	bone
27	chr6:54293800-54296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:54294200-54294800	Enhancers	NHDF-Ad	bronchial
29	chr6:54294400-54294600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:54294400-54296400	Weak transcription	GM12878-XiMat	blood
31	chr6:54294600-54296400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:54294800-54295200	Weak transcription	NHDF-Ad	bronchial
33	chr6:54295200-54297000	Enhancers	NHDF-Ad	bronchial
34	chr6:54295600-54296800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:54295600-54296800	Enhancers	NHLF	lung
36	chr6:54296000-54296800	Enhancers	Osteobl	bone
37	chr6:54296000-54297000	Enhancers	HUVEC	blood vessel
38	chr6:54296200-54296400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:54296200-54296800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:54296400-54296600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:54296400-54297000	Enhancers	GM12878-XiMat	blood
42	chr6:54296400-54297600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:54296600-54296800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:54296600-54297000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:54296800-54297200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:54305200-54305600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:54305200-54306000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:54305400-54305800	Enhancers	NHEK	skin
49	chr6:54305400-54306000	Enhancers	Esophagus	oesophagus
50	chr6:54305800-54306000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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