Variant report

Variant	nsv886317
Chromosome Location	chr6:81428336-81536597
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	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
2	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
3	chr6:81475807..81477610-chr6:81479287..81482021,2	MCF-7	breast:
4	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
5	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
6	chr6:81383718..81384315-chr6:81452032..81452789,2	MCF-7	breast:
7	chr6:81432843..81435749-chr6:81437769..81439688,2	MCF-7	breast:
8	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:

No data

Extended variants
information (count: 1541 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2123993	chr6:81428336-81428337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189997280	chr6:81428350-81428351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77261126	chr6:81428351-81428352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560687065	chr6:81428366-81428367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529702347	chr6:81428400-81428401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546329829	chr6:81428473-81428474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560237098	chr6:81428508-81428509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543879736	chr6:81428518-81428519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201044323	chr6:81428520-81428521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532164544	chr6:81428521-81428522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551986057	chr6:81428522-81428523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569562445	chr6:81428666-81428667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192906602	chr6:81428691-81428692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184123641	chr6:81428698-81428699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs985737	chr6:81428748-81428749	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs200965385	chr6:81428763-81428764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs985736	chr6:81428777-81428778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4515338	chr6:81428789-81428790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567358926	chr6:81428792-81428793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373772278	chr6:81428793-81428794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536654131	chr6:81428796-81428797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188083230	chr6:81428830-81428831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573328376	chr6:81428837-81428838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4596438	chr6:81428854-81428855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180937305	chr6:81428857-81428858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559164416	chr6:81428885-81428886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575924788	chr6:81428924-81428925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544879074	chr6:81428948-81428949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367657232	chr6:81429003-81429004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143888682	chr6:81429024-81429025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574344697	chr6:81429057-81429058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7754084	chr6:81429073-81429074	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559974592	chr6:81429077-81429078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532105902	chr6:81429104-81429105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551876045	chr6:81429137-81429138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562505525	chr6:81429140-81429141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1454449	chr6:81429229-81429230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548138813	chr6:81429236-81429237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112058761	chr6:81429323-81429324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568389880	chr6:81429329-81429330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368338602	chr6:81429332-81429333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536243793	chr6:81429364-81429365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541911169	chr6:81429368-81429369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572647119	chr6:81429374-81429375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11755137	chr6:81429376-81429377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371796548	chr6:81429477-81429478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539760375	chr6:81429482-81429483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547007474	chr6:81429500-81429501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561786720	chr6:81429518-81429519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115067626	chr6:81429562-81429563	Enhancers Weak transcription	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81425000-81430000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:81426600-81429600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:81429600-81430000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:81429600-81430800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:81430000-81430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:81430400-81432600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:81430600-81432800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:81431800-81432600	Enhancers	HSMM	muscle
9	chr6:81432600-81434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:81432600-81435000	Weak transcription	HSMM	muscle
11	chr6:81432800-81434600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:81433000-81433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:81433400-81434600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:81434400-81434600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:81434400-81435000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:81434600-81435000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:81434600-81435000	Active TSS	NHDF-Ad	bronchial
18	chr6:81434600-81435000	Active TSS	Osteobl	bone
19	chr6:81434600-81435200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:81434600-81435800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:81434800-81435800	Enhancers	HSMMtube	muscle
22	chr6:81435000-81435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:81435000-81435400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:81435000-81435400	Flanking Active TSS	Osteobl	bone
25	chr6:81435000-81435600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:81435000-81435600	Enhancers	HSMM	muscle
27	chr6:81435000-81435800	Enhancers	NHDF-Ad	bronchial
28	chr6:81435200-81435600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:81435200-81435600	Enhancers	NHLF	lung
30	chr6:81435400-81435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:81435400-81435600	Enhancers	Osteobl	bone
32	chr6:81435400-81435800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:81435600-81435800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:81435800-81436200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr6:81438400-81439200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:81439200-81443200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:81442400-81442800	Enhancers	Psoas Muscle	Psoas
38	chr6:81442400-81444200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:81442800-81444200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:81443200-81443600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:81443400-81444000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:81443600-81445600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:81445600-81446800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr6:81446400-81446600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:81451800-81452800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:81452200-81452800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:81469800-81472400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:81472400-81473000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:81473000-81480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr6:81476200-81479600	Enhancers	Muscle Satellite Cultured Cells	--

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