Variant report

Variant	nsv886316
Chromosome Location	chr6:81390313-81554464
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:81409393..81411160-chr6:81414205..81416230,2	K562	blood:
2	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
3	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:
4	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
5	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
6	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
7	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
8	chr6:81409393..81411160-chr6:81414205..81416230,2	K562	blood:
9	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
10	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
11	chr6:81412447..81415147-chr6:82462041..82464477,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112773	chromatin interactions

Extended variants
information (count: 2310 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2310 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1454452	chr6:81390313-81390314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537117638	chr6:81390377-81390378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565899587	chr6:81399213-81399214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528282975	chr6:81399233-81399234	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534590344	chr6:81399235-81399236	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553499682	chr6:81399239-81399240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577872630	chr6:81399247-81399248	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs115319878	chr6:81399254-81399255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375005049	chr6:81399272-81399273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116124813	chr6:81399289-81399290	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576604081	chr6:81399292-81399293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542378992	chr6:81399339-81399340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189353830	chr6:81399362-81399363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79643793	chr6:81399403-81399404	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118086928	chr6:81399448-81399449	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545393505	chr6:81399455-81399456	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34570868	chr6:81399464-81399465	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533460739	chr6:81399509-81399510	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138098885	chr6:81399517-81399518	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184369082	chr6:81399550-81399551	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528939908	chr6:81399566-81399567	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189077917	chr6:81399576-81399577	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575719908	chr6:81399586-81399587	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548694076	chr6:81399606-81399607	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs118017598	chr6:81399608-81399609	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534779245	chr6:81399680-81399681	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149523808	chr6:81399695-81399696	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544430805	chr6:81399705-81399706	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145942207	chr6:81399759-81399760	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139833817	chr6:81399808-81399809	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556583701	chr6:81399819-81399820	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7748985	chr6:81399856-81399857	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535873869	chr6:81399873-81399874	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116519286	chr6:81399900-81399901	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143158954	chr6:81399949-81399950	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571167466	chr6:81399967-81399968	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541566014	chr6:81399997-81399998	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564571112	chr6:81400126-81400127	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181317406	chr6:81400148-81400149	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557028135	chr6:81400150-81400151	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115966603	chr6:81400154-81400155	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528829557	chr6:81400170-81400171	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548715745	chr6:81400173-81400174	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs559357203	chr6:81400248-81400249	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186516867	chr6:81400258-81400259	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530200258	chr6:81400261-81400262	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551546483	chr6:81400266-81400267	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571388046	chr6:81400287-81400288	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530806667	chr6:81400298-81400299	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs79203546	chr6:81400320-81400321	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	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
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81388400-81390400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:81399200-81400000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:81399200-81400200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:81399400-81399600	Enhancers	Dnd41	blood
5	chr6:81399400-81399800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:81399400-81400000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:81399400-81400000	Active TSS	Stomach Smooth Muscle	stomach
8	chr6:81399400-81400000	Active TSS	NHLF	lung
9	chr6:81399400-81400600	Enhancers	Osteobl	bone
10	chr6:81399400-81400800	Active TSS	NHDF-Ad	bronchial
11	chr6:81399600-81400000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:81399600-81400800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:81399600-81401000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:81399600-81401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:81399800-81400600	Enhancers	Fetal Muscle Leg	muscle
16	chr6:81400000-81400200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:81400000-81400400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr6:81400000-81400400	Enhancers	Fetal Brain Male	brain
19	chr6:81400000-81400400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:81400000-81400400	Enhancers	NHLF	lung
21	chr6:81400000-81400600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr6:81400000-81401200	Enhancers	Fetal Brain Female	brain
23	chr6:81400200-81400600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:81400200-81400800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:81400400-81400600	Flanking Active TSS	NHLF	lung
26	chr6:81400400-81400800	Enhancers	Adipose Nuclei	Adipose
27	chr6:81400400-81400800	Weak transcription	Fetal Brain Male	brain
28	chr6:81400400-81401000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr6:81400600-81400800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:81400600-81400800	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:81400600-81400800	Enhancers	NHLF	lung
32	chr6:81400800-81401400	Enhancers	Fetal Brain Male	brain
33	chr6:81400800-81405800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:81401000-81402000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr6:81402000-81403400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:81403400-81404000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:81404000-81405800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr6:81405800-81406200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:81405800-81406600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:81409600-81412000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:81411200-81412800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:81412000-81412600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:81412600-81413600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:81413600-81413800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:81425000-81430000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:81426400-81426600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:81426600-81429600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:81429600-81430000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:81429600-81430800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:81430000-81430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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