Variant report

Variant	nsv604132
Chromosome Location	chr6:91995736-92093212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:92039721..92040294-chr6:93354118..93354772,2	MCF-7	breast:
2	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:
3	chr6:92039620..92040133-chr6:92244085..92244800,2	MCF-7	breast:
4	chr6:92055587..92058216-chr6:92087583..92089845,2	MCF-7	breast:
5	chr6:92055587..92058216-chr6:92087583..92089845,2	MCF-7	breast:
6	chr6:91990614..91993212-chr6:91996276..91998724,2	K562	blood:
7	chr6:30582867..30584827-chr6:92085205..92087278,2	MCF-7	breast:
8	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
9	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
10	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:
11	chr6:92039625..92040672-chr6:92243858..92245014,7	MCF-7	breast:
12	chr6:91986581..91989347-chr6:91997035..91999767,2	MCF-7	breast:
13	chr6:91992230..91994591-chr6:91995419..91998327,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265419	chromatin interactions
ENSG00000222894	chromatin interactions

Extended variants
information (count: 1840 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1840 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572737112	chr6:91997221-91997222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144167068	chr6:91997236-91997237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577034010	chr6:91997272-91997273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573470061	chr6:91997281-91997282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555082159	chr6:91997285-91997286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575452926	chr6:91997307-91997308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544102129	chr6:91997363-91997364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563934537	chr6:91997431-91997432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148678075	chr6:91997465-91997466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78705058	chr6:91997467-91997468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186690288	chr6:91997475-91997476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114668204	chr6:91997493-91997494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529390066	chr6:91997528-91997529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9362865	chr6:91997544-91997545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559376271	chr6:91997548-91997549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562749907	chr6:91997557-91997558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531997786	chr6:91997567-91997568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111461165	chr6:91997593-91997594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571861835	chr6:91997609-91997610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147242958	chr6:91997618-91997619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546358828	chr6:91997628-91997629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75216968	chr6:91997684-91997685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535205045	chr6:91997703-91997704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555295314	chr6:91997709-91997710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574940134	chr6:91997710-91997711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537738820	chr6:91997739-91997740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140865398	chr6:91997782-91997783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557663601	chr6:91997787-91997788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117524002	chr6:91997790-91997791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75579991	chr6:91997839-91997840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144696028	chr6:91997878-91997879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151308369	chr6:91997894-91997895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542759211	chr6:91997899-91997900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562899664	chr6:91997907-91997908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190401652	chr6:91997912-91997913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552090796	chr6:91997922-91997923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181188918	chr6:91997970-91997971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74863924	chr6:91997972-91997973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528003145	chr6:91998049-91998050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185278446	chr6:91998056-91998057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567759345	chr6:91998063-91998064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113924245	chr6:91998072-91998073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36126080	chr6:91998113-91998114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548844897	chr6:91998115-91998116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375900418	chr6:91998123-91998124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397886502	chr6:91998124-91998125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568496219	chr6:91998126-91998127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541538801	chr6:91998136-91998137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537476668	chr6:91998146-91998147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557352843	chr6:91998198-91998199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91997200-91997600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:91997600-91998600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:91998200-91998800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:91998400-91999000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:91998400-91999400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:91998600-91998800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:91998600-91998800	Enhancers	Brain Angular Gyrus	brain
8	chr6:91998600-91998800	Enhancers	Brain Hippocampus Middle	brain
9	chr6:91998800-92000000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:91999000-92000400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:92000000-92000400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:92000200-92001800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:92000400-92000800	Enhancers	Brain Hippocampus Middle	brain
14	chr6:92000400-92001000	Enhancers	Brain Angular Gyrus	brain
15	chr6:92000400-92001400	Enhancers	NH-A	brain
16	chr6:92000400-92001600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:92000400-92001800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:92001600-92003000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:92001800-92003200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:92003000-92003400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:92003200-92003400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:92003400-92008800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:92005000-92005200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:92005000-92005200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr6:92005400-92008000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:92007800-92008000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:92007800-92008600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr6:92008000-92008200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:92008000-92008200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:92008000-92008600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr6:92008000-92008800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr6:92008000-92009400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:92008000-92010000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:92008000-92010000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr6:92008200-92008600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr6:92008200-92008800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:92008400-92009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:92008400-92010000	Enhancers	Fetal Stomach	stomach
39	chr6:92008600-92008800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr6:92008600-92009000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr6:92008600-92009200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
42	chr6:92008600-92009400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr6:92008600-92009400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr6:92008600-92009600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:92008600-92009800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr6:92008600-92010000	Enhancers	NH-A	brain
47	chr6:92008800-92009200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr6:92008800-92009400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:92008800-92009400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr6:92008800-92009800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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