Variant report

Variant	nsv5311
Chromosome Location	chr6:55259390-55304045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55300666..55302654-chr6:55304305..55306294,2	MCF-7	breast:
2	chr6:55296640..55298261-chr6:55299680..55302209,2	K562	blood:
3	chr6:55296640..55298261-chr6:55299680..55302209,2	K562	blood:

Variant related genes	Relation type
ENSG00000146151	chromatin interactions

Extended variants
information (count: 799 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:799 , 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	rs563372077	chr6:55260615-55260616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573624482	chr6:55260625-55260626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79817127	chr6:55260657-55260658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561909644	chr6:55260667-55260668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139632428	chr6:55260706-55260707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149737219	chr6:55260716-55260717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543613275	chr6:55260732-55260733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16886691	chr6:55260734-55260735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563787199	chr6:55260743-55260744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569408989	chr6:55260758-55260759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115948553	chr6:55260782-55260783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114530526	chr6:55260795-55260796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529328452	chr6:55260806-55260807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78278459	chr6:55260808-55260809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80202320	chr6:55260813-55260814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12190531	chr6:55260851-55260852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558066250	chr6:55260862-55260863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9349777	chr6:55260863-55260864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145605328	chr6:55260942-55260943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556647092	chr6:55260994-55260995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111411220	chr6:55261059-55261060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142610756	chr6:55261062-55261063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10948909	chr6:55261069-55261070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146831471	chr6:55261086-55261087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541361297	chr6:55261127-55261128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375530170	chr6:55261131-55261132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533430411	chr6:55261143-55261144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140569013	chr6:55261163-55261164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115539926	chr6:55261312-55261313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114280855	chr6:55261341-55261342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537320159	chr6:55261357-55261358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549488327	chr6:55261358-55261359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565916372	chr6:55261359-55261360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76786858	chr6:55261369-55261370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146538006	chr6:55261420-55261421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571531313	chr6:55261422-55261423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536905504	chr6:55261424-55261425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539397378	chr6:55261504-55261505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182699101	chr6:55261557-55261558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386701368	chr6:55261567-55261568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116820176	chr6:55261569-55261570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369457794	chr6:55261674-55261675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77628732	chr6:55261686-55261687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75292808	chr6:55261689-55261690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372360040	chr6:55261692-55261693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187775953	chr6:55261708-55261709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191767007	chr6:55261726-55261727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10948910	chr6:55261810-55261811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541249216	chr6:55261887-55261888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557896637	chr6:55261905-55261906	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
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55260600-55261000	Enhancers	Colon Smooth Muscle	Colon
2	chr6:55260600-55261000	Enhancers	Fetal Heart	heart
3	chr6:55260600-55261000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:55260600-55261200	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr6:55261000-55262400	Weak transcription	Fetal Heart	heart
6	chr6:55262400-55263000	Enhancers	Fetal Heart	heart
7	chr6:55262400-55263200	Enhancers	Fetal Stomach	stomach
8	chr6:55263200-55269800	Weak transcription	Fetal Stomach	stomach
9	chr6:55263400-55263600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:55264400-55264600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:55268200-55268400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:55268400-55268800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:55269800-55270000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:55269800-55270800	Enhancers	Fetal Stomach	stomach
15	chr6:55270200-55271000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:55270200-55271200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:55270400-55271400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:55279600-55280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:55279800-55280200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:55279800-55280200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:55288600-55289200	Enhancers	Fetal Lung	lung
22	chr6:55296000-55298400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:55297800-55299000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:55298000-55298600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:55298200-55298600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:55298200-55298800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:55298200-55298800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:55298200-55298800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:55298200-55298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:55298200-55299000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:55298200-55299000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:55298200-55299000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:55298200-55299000	Enhancers	HMEC	breast
34	chr6:55298200-55299200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:55298200-55299200	Enhancers	NHLF	lung
36	chr6:55298400-55298800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr6:55298400-55299000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:55298400-55299000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:55298400-55299000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:55298400-55299000	Enhancers	NHDF-Ad	bronchial
41	chr6:55298400-55299000	Enhancers	Osteobl	bone
42	chr6:55298400-55299200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:55298600-55299000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:55298600-55299000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:55298600-55299200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:55298800-55299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:55299000-55301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:55299000-55303000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:55299800-55300000	Enhancers	Fetal Heart	heart
50	chr6:55300000-55301000	Weak transcription	Fetal Heart	heart

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