Variant report

Variant	nsv604782
Chromosome Location	chr6:141254659-141342927
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	chr6:141245976..141248049-chr6:141253125..141254687,2	MCF-7	breast:
2	chr6:141314907..141317721-chr6:141319915..141321447,2	K562	blood:
3	chr5:98131550..98132070-chr6:141289515..141290035,2	MCF-7	breast:
4	chr6:141314907..141317721-chr6:141319915..141321447,2	K562	blood:
5	chr6:141324954..141326818-chr6:141329009..141331828,2	K562	blood:
6	chr6:141328979..141331399-chr6:141334184..141335963,2	K562	blood:
7	chr6:141324954..141326818-chr6:141329009..141331828,2	K562	blood:
8	chr6:141328979..141331399-chr6:141334184..141335963,2	K562	blood:

No data

Extended variants
information (count: 1492 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1492 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192479408	chr6:141255601-141255602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539347985	chr6:141255610-141255611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551217474	chr6:141255611-141255612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566441614	chr6:141255613-141255614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533750159	chr6:141255799-141255800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183902058	chr6:141255835-141255836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567333882	chr6:141255847-141255848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149857187	chr6:141255859-141255860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188361241	chr6:141255860-141255861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578236433	chr6:141255864-141255865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145690357	chr6:141255874-141255875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139854733	chr6:141255883-141255884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559137107	chr6:141255896-141255897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73570092	chr6:141255906-141255907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542977187	chr6:141255925-141255926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561151114	chr6:141255961-141255962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34965977	chr6:141255970-141255971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76264352	chr6:141255978-141255979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543590766	chr6:141256004-141256005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180713821	chr6:141256017-141256018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532923459	chr6:141256020-141256021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551180842	chr6:141256048-141256049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145372737	chr6:141256072-141256073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186375636	chr6:141256084-141256085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548948999	chr6:141256103-141256104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536302280	chr6:141256110-141256111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368472218	chr6:141256112-141256113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147692703	chr6:141256148-141256149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543793616	chr6:141256199-141256200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189661225	chr6:141256208-141256209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369592564	chr6:141256219-141256220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566164094	chr6:141256234-141256235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181896562	chr6:141256248-141256249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539201037	chr6:141256262-141256263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554426114	chr6:141256285-141256286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370856107	chr6:141256297-141256298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186926504	chr6:141256312-141256313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111466136	chr6:141256347-141256348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113190547	chr6:141256371-141256372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540681891	chr6:141256372-141256373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550974649	chr6:141256375-141256376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58763066	chr6:141256398-141256399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554937768	chr6:141256433-141256434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533837674	chr6:141256446-141256447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191022173	chr6:141256467-141256468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111861339	chr6:141256488-141256489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543423875	chr6:141256500-141256501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142476585	chr6:141256504-141256505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548610716	chr6:141256533-141256534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75982319	chr6:141256609-141256610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141255600-141255800	Enhancers	Ovary	ovary
2	chr6:141255800-141260400	Weak transcription	Ovary	ovary
3	chr6:141257400-141257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:141260400-141261000	Enhancers	Fetal Stomach	stomach
5	chr6:141260400-141261000	Enhancers	Ovary	ovary
6	chr6:141277000-141279000	Enhancers	Brain Germinal Matrix	brain
7	chr6:141277400-141278200	Enhancers	Brain Substantia Nigra	brain
8	chr6:141277400-141278800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:141277600-141278800	Enhancers	NHDF-Ad	bronchial
10	chr6:141277600-141279000	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:141277600-141279600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:141277800-141278400	Enhancers	Brain Anterior Caudate	brain
13	chr6:141277800-141278600	Enhancers	NHLF	lung
14	chr6:141277800-141279000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:141278000-141278200	Enhancers	Brain Hippocampus Middle	brain
16	chr6:141278000-141278800	Enhancers	Brain Angular Gyrus	brain
17	chr6:141278200-141278400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:141278200-141278600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr6:141278200-141278600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr6:141278200-141278800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:141278200-141278800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:141278200-141279000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:141278400-141278600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr6:141278400-141278600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:141278600-141278800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr6:141278600-141278800	Enhancers	Brain Substantia Nigra	brain
27	chr6:141278600-141279200	Enhancers	Brain Hippocampus Middle	brain
28	chr6:141279600-141281600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:141281400-141282400	Enhancers	HUVEC	blood vessel
30	chr6:141281600-141281800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:141281600-141282200	Enhancers	Osteobl	bone
32	chr6:141281800-141282200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:141282200-141283000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:141282200-141287600	Weak transcription	Osteobl	bone
35	chr6:141287600-141288000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:141287600-141288000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:141287600-141288200	Enhancers	Osteobl	bone
38	chr6:141287600-141288400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:141289800-141290200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:141289800-141290400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:141290200-141290400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:141290400-141291600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:141291400-141291800	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:141291600-141292000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:141297800-141298800	Enhancers	Fetal Stomach	stomach
46	chr6:141297800-141299000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr6:141298000-141298400	Enhancers	Colon Smooth Muscle	Colon
48	chr6:141298000-141299200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:141298200-141298400	Enhancers	NHLF	lung
50	chr6:141298200-141298800	Enhancers	Fetal Lung	lung

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