Variant report

Variant	nsv1019228
Chromosome Location	chr6:55608688-55653498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55623116..55625818-chr6:55638380..55641256,2	MCF-7	breast:
2	chr6:54711417..54713153-chr6:55620914..55622854,2	MCF-7	breast:
3	chr6:55613375..55615360-chr6:55624313..55626846,2	MCF-7	breast:
4	chr6:55623116..55625818-chr6:55638380..55641256,2	MCF-7	breast:
5	chr6:55497542..55498111-chr6:55623067..55623980,2	MCF-7	breast:
6	chr6:55613375..55615360-chr6:55624313..55626846,2	MCF-7	breast:
7	chr6:55622493..55624357-chr6:55728827..55731064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	chromatin interactions

Extended variants
information (count: 1598 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1598 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79514541	chr6:55608801-55608802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541467452	chr6:55608803-55608804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564393679	chr6:55608809-55608810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75862639	chr6:55608811-55608812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564906898	chr6:55608819-55608820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140639374	chr6:55608825-55608826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34811525	chr6:55608837-55608838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371327719	chr6:55608870-55608871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143105968	chr6:55608884-55608885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13216589	chr6:55608898-55608899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532201642	chr6:55608899-55608900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528942907	chr6:55608908-55608909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34772557	chr6:55608914-55608915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532533929	chr6:55608919-55608920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548689669	chr6:55608923-55608924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565465423	chr6:55608925-55608926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534303439	chr6:55608945-55608946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557369134	chr6:55608959-55608960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571119400	chr6:55608971-55608972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190428924	chr6:55609116-55609117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17676046	chr6:55609144-55609145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576578595	chr6:55609155-55609156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146148810	chr6:55609167-55609168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555877759	chr6:55609183-55609184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182593168	chr6:55609192-55609193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541428308	chr6:55609194-55609195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73453327	chr6:55609269-55609270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533207984	chr6:55609301-55609302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79227228	chr6:55609335-55609336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563468038	chr6:55609361-55609362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192010635	chr6:55609393-55609394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548798784	chr6:55609432-55609433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185633093	chr6:55609448-55609449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188859545	chr6:55609452-55609453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528215250	chr6:55609480-55609481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192348710	chr6:55609502-55609503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372266765	chr6:55609517-55609518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184658050	chr6:55609532-55609533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188153696	chr6:55609564-55609565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375228026	chr6:55609583-55609584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371524091	chr6:55609632-55609633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9475391	chr6:55609633-55609634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536044932	chr6:55609643-55609644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530445486	chr6:55609678-55609679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72868818	chr6:55609679-55609680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572569756	chr6:55609685-55609686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191808342	chr6:55609686-55609687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558092382	chr6:55609735-55609736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577973269	chr6:55609738-55609739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567934763	chr6:55609744-55609745	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55608800-55622000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:55611200-55611600	Enhancers	Fetal Lung	lung
3	chr6:55612200-55612600	Enhancers	Fetal Heart	heart
4	chr6:55612600-55623000	Weak transcription	Fetal Heart	heart
5	chr6:55614600-55614800	ZNF genes & repeats	Pancreas	Pancrea
6	chr6:55616200-55616600	ZNF genes & repeats	Fetal Lung	lung
7	chr6:55616200-55627800	Weak transcription	Fetal Brain Male	brain
8	chr6:55616600-55619000	Weak transcription	Fetal Lung	lung
9	chr6:55617400-55619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:55617800-55618600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
12	chr6:55618600-55619200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:55619000-55619200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:55619000-55619600	Genic enhancers	Fetal Lung	lung
15	chr6:55619000-55619800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:55619200-55620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:55619200-55620200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:55619400-55619800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:55619600-55619800	Enhancers	Fetal Lung	lung
20	chr6:55619600-55624600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:55619800-55621200	Weak transcription	Fetal Lung	lung
22	chr6:55619800-55626000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:55620200-55623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:55620200-55623800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:55620800-55621400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:55621200-55621400	Enhancers	Fetal Lung	lung
27	chr6:55621400-55621600	Weak transcription	Fetal Lung	lung
28	chr6:55621400-55621800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:55621400-55624600	Enhancers	Hela-S3	cervix
30	chr6:55621600-55621800	Genic enhancers	Fetal Lung	lung
31	chr6:55621800-55625000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:55621800-55626800	Strong transcription	Fetal Lung	lung
33	chr6:55622000-55624000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:55622800-55623000	Enhancers	NHDF-Ad	bronchial
35	chr6:55622800-55623200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:55622800-55624000	Enhancers	NHEK	skin
37	chr6:55622800-55624400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:55622800-55624600	Enhancers	HMEC	breast
39	chr6:55623000-55623200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:55623000-55623200	ZNF genes & repeats	Fetal Heart	heart
41	chr6:55623000-55623200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr6:55623000-55623800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:55623000-55624000	Enhancers	Osteobl	bone
44	chr6:55623000-55624600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:55623000-55624600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:55623200-55623800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr6:55623200-55624600	Enhancers	NHDF-Ad	bronchial
48	chr6:55623200-55631400	Weak transcription	Fetal Heart	heart
49	chr6:55623400-55623800	Enhancers	A549	lung
50	chr6:55623400-55624000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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