Variant report

Variant	nsv1018752
Chromosome Location	chr6:140127295-140144919
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140137505..140139416-chr6:140141678..140144542,3	K562	blood:
2	chr6:139693600..139695458-chr6:140131244..140133908,2	K562	blood:
3	chr6:140137505..140139416-chr6:140141678..140144542,3	K562	blood:
4	chr6:140140156..140142876-chr6:140150125..140152606,2	K562	blood:
5	chr6:140133269..140136209-chr6:140137341..140139354,2	MCF-7	breast:
6	chr6:140140102..140141609-chr6:140143434..140145360,2	K562	blood:
7	chr6:140143855..140145864-chr6:140148149..140150227,2	K562	blood:
8	chr6:139773415..139775962-chr6:140133812..140135963,2	K562	blood:
9	chr6:139695107..139696860-chr6:140141240..140143122,2	K562	blood:
10	chr6:140128805..140131673-chr6:141152750..141154839,2	K562	blood:
11	chr6:140143575..140149328-chr6:140151123..140155301,5	MCF-7	breast:
12	chr6:140143350..140145864-chr6:140147997..140150227,3	K562	blood:
13	chr6:140123522..140126295-chr6:140134268..140137009,2	K562	blood:
14	chr6:139694383..139697089-chr6:140144858..140146538,2	MCF-7	breast:
15	chr6:140133269..140136209-chr6:140137341..140139354,2	MCF-7	breast:
16	chr6:140140102..140141609-chr6:140143434..140145360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560240315	chr6:140131320-140131321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9403124	chr6:140131338-140131339	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35267863	chr6:140131418-140131419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs193084244	chr6:140131526-140131527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561604886	chr6:140131533-140131534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183927189	chr6:140131577-140131578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374470972	chr6:140131598-140131599	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201573128	chr6:140131662-140131663	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550389350	chr6:140131724-140131725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571918238	chr6:140131785-140131786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553602397	chr6:140131786-140131787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115487766	chr6:140131825-140131826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147158462	chr6:140131854-140131855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533808852	chr6:140131887-140131888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555094528	chr6:140131913-140131914	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567205746	chr6:140131943-140131944	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186721352	chr6:140131945-140131946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577048964	chr6:140132007-140132008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371528102	chr6:140132043-140132044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140920333	chr6:140132045-140132046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564111323	chr6:140132064-140132065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs60751153	chr6:140132065-140132066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577417836	chr6:140132074-140132075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6906113	chr6:140132136-140132137	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs59285826	chr6:140132140-140132141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs554256138	chr6:140132152-140132153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572475532	chr6:140132169-140132170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530296315	chr6:140132197-140132198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6926194	chr6:140132249-140132250	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530531545	chr6:140132272-140132273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs3001013	chr6:140132275-140132276	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191857790	chr6:140132315-140132316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184039771	chr6:140132316-140132317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386706414	chr6:140132456-140132457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112995520	chr6:140132457-140132458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73775700	chr6:140132458-140132459	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551165387	chr6:140132519-140132520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73570339	chr6:140132523-140132524	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546932806	chr6:140132543-140132544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34001099	chr6:140132684-140132685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116334381	chr6:140132824-140132825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189991177	chr6:140132843-140132844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148480874	chr6:140132855-140132856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560972793	chr6:140132877-140132878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386706415	chr6:140132880-140132881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564815136	chr6:140132887-140132888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537699634	chr6:140132892-140132893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs193199366	chr6:140132896-140132897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185119883	chr6:140132925-140132926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77745262	chr6:140132961-140132962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21785460	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 myeloid leukemia	21251322	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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140139200-140143400	Enhancers	NHDF-Ad	bronchial
2	chr6:140139400-140141400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:140139400-140142400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:140139400-140142400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:140139400-140142600	Enhancers	Osteobl	bone
6	chr6:140139600-140142400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:140139800-140140200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:140139800-140141200	Enhancers	HUVEC	blood vessel
9	chr6:140140200-140140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:140140400-140142600	Enhancers	NHLF	lung
11	chr6:140140600-140142400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:140140800-140141200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:140140800-140142400	Enhancers	NH-A	brain
14	chr6:140141000-140141200	Enhancers	Placenta	Placenta
15	chr6:140141000-140141600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:140141000-140142000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:140141000-140142400	Enhancers	Hela-S3	cervix
18	chr6:140141200-140141400	Flanking Active TSS	HUVEC	blood vessel
19	chr6:140141400-140141600	Enhancers	HUVEC	blood vessel
20	chr6:140141400-140145000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:140141600-140141800	Flanking Active TSS	HUVEC	blood vessel
22	chr6:140141800-140143200	Enhancers	HUVEC	blood vessel
23	chr6:140142000-140142200	Enhancers	Aorta	Aorta
24	chr6:140142000-140143000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:140142200-140144400	Enhancers	K562	blood
26	chr6:140142200-140160800	Weak transcription	Aorta	Aorta
27	chr6:140142400-140142800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:140143200-140144400	Weak transcription	HUVEC	blood vessel
29	chr6:140143400-140146200	Weak transcription	NHDF-Ad	bronchial
30	chr6:140144400-140144800	Flanking Active TSS	K562	blood
31	chr6:140144400-140145200	Enhancers	HUVEC	blood vessel
32	chr6:140144800-140145200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr6:140144800-140146800	Enhancers	K562	blood

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