Variant report

Variant	nsv604135
Chromosome Location	chr6:92014790-92067726
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:
2	chr6:92025048..92027862-chr6:92036199..92038247,2	K562	blood:
3	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
4	chr6:92039625..92040672-chr6:92243858..92245014,7	MCF-7	breast:
5	chr6:92024328..92026291-chr6:92028411..92031026,2	MCF-7	breast:
6	chr6:92039620..92040133-chr6:92244085..92244800,2	MCF-7	breast:
7	chr6:92039721..92040294-chr6:93354118..93354772,2	MCF-7	breast:
8	chr6:92055587..92058216-chr6:92087583..92089845,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265419	chromatin interactions

Extended variants
information (count: 914 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2655638	chr6:92014790-92014791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534326314	chr6:92014791-92014792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114139022	chr6:92014796-92014797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376885492	chr6:92014800-92014801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140629216	chr6:92015614-92015615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538931940	chr6:92015650-92015651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145707431	chr6:92015651-92015652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566055759	chr6:92015657-92015658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534844251	chr6:92015724-92015725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7752820	chr6:92015738-92015739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374597105	chr6:92015742-92015743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187710789	chr6:92015747-92015748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193242046	chr6:92015791-92015792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546931762	chr6:92015838-92015839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541066485	chr6:92015864-92015865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138193220	chr6:92015920-92015921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116270019	chr6:92015925-92015926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185733033	chr6:92015939-92015940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74987218	chr6:92015943-92015944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12209599	chr6:92015976-92015977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551917728	chr6:92016005-92016006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572373029	chr6:92016026-92016027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541180449	chr6:92016067-92016068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190637084	chr6:92016097-92016098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148410064	chr6:92016109-92016110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9451639	chr6:92016139-92016140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79046787	chr6:92016142-92016143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555097134	chr6:92016166-92016167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563459154	chr6:92016173-92016174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574709471	chr6:92016179-92016180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144315489	chr6:92016199-92016200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552159340	chr6:92016200-92016201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554024692	chr6:92016236-92016237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565993935	chr6:92016243-92016244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76966106	chr6:92016259-92016260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548762501	chr6:92016280-92016281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117227909	chr6:92016283-92016284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532054777	chr6:92016291-92016292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371546565	chr6:92016317-92016318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9451640	chr6:92016323-92016324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569788399	chr6:92016331-92016332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538589950	chr6:92016337-92016338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148386773	chr6:92016345-92016346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558595469	chr6:92016383-92016384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572360780	chr6:92016526-92016527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79302470	chr6:92016528-92016529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376384514	chr6:92016538-92016539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554734326	chr6:92016545-92016546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574514509	chr6:92016549-92016550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543625003	chr6:92016586-92016587	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92014400-92014800	Enhancers	Fetal Lung	lung
2	chr6:92015600-92016800	Enhancers	Fetal Stomach	stomach
3	chr6:92023800-92024000	Enhancers	Ovary	ovary
4	chr6:92024000-92025400	Weak transcription	Ovary	ovary
5	chr6:92024800-92025000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:92025000-92025800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:92025400-92025800	Enhancers	Ovary	ovary
8	chr6:92025600-92026000	Active TSS	Brain Anterior Caudate	brain
9	chr6:92025600-92026000	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:92025600-92027600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:92025600-92027600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:92025600-92027600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:92025600-92027800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:92025800-92026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:92025800-92026000	Flanking Active TSS	Ovary	ovary
16	chr6:92025800-92026400	Enhancers	Brain Germinal Matrix	brain
17	chr6:92026000-92026200	Active TSS	Ovary	ovary
18	chr6:92026200-92027600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:92026400-92026800	Weak transcription	Brain Germinal Matrix	brain
20	chr6:92026800-92027200	Enhancers	Brain Germinal Matrix	brain
21	chr6:92026800-92027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:92026800-92027400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:92027000-92027600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:92027000-92027600	Enhancers	Brain Hippocampus Middle	brain
25	chr6:92027200-92027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:92027200-92027600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:92027200-92027800	Enhancers	Colon Smooth Muscle	Colon
28	chr6:92027400-92027600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:92039800-92040000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:92040000-92040600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:92040600-92041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:92040600-92041200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:92040800-92041200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:92040800-92041400	Enhancers	Fetal Lung	lung
35	chr6:92040800-92041400	Enhancers	Fetal Muscle Leg	muscle
36	chr6:92041200-92050600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:92045400-92046400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:92048000-92050600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:92049000-92049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:92049200-92049400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr6:92049400-92050600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:92050400-92050600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr6:92050400-92050600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:92050600-92050800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:92050600-92051400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:92050600-92051400	Enhancers	Adipose Nuclei	Adipose
47	chr6:92050600-92051400	Enhancers	Brain Angular Gyrus	brain
48	chr6:92050600-92051600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:92050600-92051600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr6:92050600-92051800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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