Variant report

Variant	nsv1032655
Chromosome Location	chr6:81942397-82225830
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	chr6:81998528..81999232-chr7:119153061..119154054,2	MCF-7	breast:
2	chr6:82222129..82223937-chr6:82236084..82238067,2	K562	blood:
3	chr6:82061373..82063037-chr6:82072058..82074412,2	MCF-7	breast:
4	chr19:44005667..44006443-chr6:81951149..81952062,2	MCF-7	breast:
5	chr6:81951165..81951953-chr6:82175557..82176202,3	MCF-7	breast:
6	chr6:81951603..81952598-chr6:82463481..82464052,2	MCF-7	breast:
7	chr6:81951165..81951953-chr6:82175557..82176202,3	MCF-7	breast:
8	chr6:82190342..82192741-chr6:82461914..82463625,2	MCF-7	breast:
9	chr15:45003689..45005679-chr6:82202647..82204263,2	K562	blood:
10	chr6:82061373..82063037-chr6:82072058..82074412,2	MCF-7	breast:
11	chr6:81452134..81452854-chr6:82175477..82176222,3	MCF-7	breast:
12	chr6:82174222..82177213-chr6:82462255..82464769,2	MCF-7	breast:
13	chr22:31795756..31797975-chr6:82164220..82166358,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166710	chromatin interactions
ENSG00000112773	chromatin interactions

Extended variants
information (count: 5712 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:5712 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370664325	chr6:81942401-81942402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147939784	chr6:81942403-81942404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570874484	chr6:81942496-81942497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141745322	chr6:81942501-81942502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10943782	chr6:81942505-81942506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150483266	chr6:81942533-81942534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77825278	chr6:81942608-81942609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181869628	chr6:81942611-81942612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572653178	chr6:81942614-81942615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541664843	chr6:81942679-81942680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557796906	chr6:81942699-81942700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577671109	chr6:81942737-81942738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149141820	chr6:81942747-81942748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16892898	chr6:81942766-81942767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375659104	chr6:81942775-81942776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370047874	chr6:81942783-81942784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113392128	chr6:81942785-81942786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559245167	chr6:81942801-81942802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528237616	chr6:81942808-81942809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551296431	chr6:81942905-81942906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186429909	chr6:81942940-81942941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533265893	chr6:81943023-81943024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200777028	chr6:81943077-81943078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550292336	chr6:81943088-81943089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75099725	chr6:81943107-81943108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574457189	chr6:81943182-81943183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79833638	chr6:81943246-81943247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189365768	chr6:81943257-81943258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12212221	chr6:81943294-81943295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528762269	chr6:81943359-81943360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77851792	chr6:81943379-81943380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181373667	chr6:81943380-81943381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548433680	chr6:81943384-81943385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543142252	chr6:81943622-81943623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374256962	chr6:81943623-81943624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573274671	chr6:81943697-81943698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115308019	chr6:81943718-81943719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559182967	chr6:81943719-81943720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528373444	chr6:81943794-81943795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59665108	chr6:81943823-81943824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142074907	chr6:81943866-81943867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530769230	chr6:81943867-81943868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549987110	chr6:81943881-81943882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376126872	chr6:81943895-81943896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368089933	chr6:81943897-81943898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186856526	chr6:81943941-81943942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529268603	chr6:81943956-81943957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146329808	chr6:81943989-81943990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146748917	chr6:81944009-81944010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6911387	chr6:81944090-81944091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81942000-81944400	Enhancers	Dnd41	blood
2	chr6:81944400-81945600	Flanking Active TSS	Dnd41	blood
3	chr6:81945600-81946800	Enhancers	Dnd41	blood
4	chr6:81950400-81953000	Enhancers	NHDF-Ad	bronchial
5	chr6:81950600-81952800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:81950600-81953000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:81950600-81953000	Enhancers	Osteobl	bone
8	chr6:81950800-81952600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:81951000-81953000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:81956400-81956800	Active TSS	Fetal Heart	heart
11	chr6:81963600-81964000	Enhancers	Osteobl	bone
12	chr6:81972400-81972600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:81972600-81972800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:81972800-81973600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:81973000-81973800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:81973400-81973600	Enhancers	Psoas Muscle	Psoas
17	chr6:81974200-81974400	Weak transcription	Psoas Muscle	Psoas
18	chr6:81974400-81974600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:81974400-81974600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:81974600-81975200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:81974600-81975200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:81974600-81975400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:81974600-81975400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr6:81974600-81975400	Active TSS	NHDF-Ad	bronchial
25	chr6:81974600-81975400	Active TSS	Osteobl	bone
26	chr6:81974600-81975600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:81974800-81975000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:81974800-81975200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:81974800-81975200	Active TSS	Adipose Nuclei	Adipose
30	chr6:81974800-81975200	Active TSS	Aorta	Aorta
31	chr6:81974800-81975200	Active TSS	Liver	Liver
32	chr6:81974800-81975200	Active TSS	Brain Anterior Caudate	brain
33	chr6:81974800-81975200	Active TSS	Duodenum Mucosa	Duodenum
34	chr6:81974800-81975200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr6:81974800-81975200	Enhancers	Psoas Muscle	Psoas
36	chr6:81974800-81975200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr6:81974800-81975200	Active TSS	Right Atrium	heart
38	chr6:81974800-81975200	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:81974800-81975200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr6:81974800-81975200	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:81974800-81975200	Enhancers	Dnd41	blood
42	chr6:81974800-81975200	Active TSS	HepG2	liver
43	chr6:81974800-81975200	Active TSS	HSMM	muscle
44	chr6:81974800-81975400	Active TSS	HSMMtube	muscle
45	chr6:81974800-81975400	Active TSS	NHLF	lung
46	chr6:81975000-81975400	Active TSS	Brain Hippocampus Middle	brain
47	chr6:81975200-81975400	Flanking Active TSS	Liver	Liver
48	chr6:81975200-81975400	Flanking Active TSS	HSMM	muscle
49	chr6:81975200-81975600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:81975200-81975600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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