Variant report

Variant	nsv823851
Chromosome Location	chr6:140019537-140024421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140017766..140019321-chr6:140022957..140024761,2	K562	blood:
2	chr6:139694310..139698630-chr6:140024372..140027713,4	K562	blood:
3	chr6:140018170..140021108-chr6:140096378..140098271,2	MCF-7	breast:
4	chr6:139694333..139696557-chr6:140022080..140025320,3	MCF-7	breast:
5	chr6:139695554..139698630-chr6:140024372..140026784,3	K562	blood:
6	chr6:140016247..140019706-chr6:140025179..140028113,3	K562	blood:

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534768276	chr6:140019559-140019560	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552882528	chr6:140019565-140019566	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371978580	chr6:140019571-140019572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577100709	chr6:140019617-140019618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544651582	chr6:140019638-140019639	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374176978	chr6:140019667-140019668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182391485	chr6:140019681-140019682	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73556088	chr6:140019683-140019684	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77449357	chr6:140019707-140019708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575198844	chr6:140019711-140019712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74950253	chr6:140019739-140019740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs183947790	chr6:140019758-140019759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369771818	chr6:140019941-140019942	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573206785	chr6:140019942-140019943	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188233942	chr6:140020001-140020002	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562142726	chr6:140020062-140020063	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372628733	chr6:140020072-140020073	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113886690	chr6:140020111-140020112	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563388818	chr6:140020161-140020162	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560786289	chr6:140020177-140020178	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139330533	chr6:140020199-140020200	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181374234	chr6:140020274-140020275	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564333295	chr6:140020287-140020288	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528372718	chr6:140020310-140020311	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78662340	chr6:140020321-140020322	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145452137	chr6:140020341-140020342	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535652349	chr6:140020342-140020343	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550630626	chr6:140020401-140020402	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75390950	chr6:140020459-140020460	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558101860	chr6:140020491-140020492	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563617793	chr6:140020584-140020585	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572951077	chr6:140020589-140020590	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147682899	chr6:140020616-140020617	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571867710	chr6:140020678-140020679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532436337	chr6:140020688-140020689	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs375103735	chr6:140020745-140020746	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556061113	chr6:140020808-140020809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116721923	chr6:140020859-140020860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377044485	chr6:140020869-140020870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67163086	chr6:140020870-140020871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75804744	chr6:140020882-140020883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544813396	chr6:140020884-140020885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200400936	chr6:140020890-140020891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143508190	chr6:140020897-140020898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372710432	chr6:140020908-140020909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200241583	chr6:140020921-140020922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563327199	chr6:140020924-140020925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185605419	chr6:140020930-140020931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575421161	chr6:140020961-140020962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552457439	chr6:140020969-140020970	Enhancers 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
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
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140015800-140019800	Weak transcription	Liver	Liver
2	chr6:140017000-140019800	Weak transcription	Adipose Nuclei	Adipose
3	chr6:140017200-140019600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:140017600-140020000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:140017800-140019600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:140018600-140019600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr6:140018800-140019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:140019400-140019600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr6:140019400-140021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:140019600-140019800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:140019600-140019800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:140019600-140019800	Enhancers	Fetal Intestine Large	intestine
13	chr6:140019600-140020600	Enhancers	Fetal Intestine Small	intestine
14	chr6:140019600-140020800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:140019600-140020800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:140019600-140021200	Enhancers	Fetal Lung	lung
17	chr6:140019600-140022000	Enhancers	Fetal Kidney	kidney
18	chr6:140019600-140022600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr6:140019800-140020200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr6:140019800-140020200	Flanking Active TSS	Liver	Liver
21	chr6:140019800-140020600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:140019800-140020600	Enhancers	Hela-S3	cervix
23	chr6:140019800-140021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:140019800-140021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:140019800-140021200	Enhancers	Adipose Nuclei	Adipose
26	chr6:140020000-140021000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr6:140020000-140021200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:140020200-140021000	Enhancers	Liver	Liver
29	chr6:140020200-140021200	Enhancers	NHDF-Ad	bronchial
30	chr6:140020200-140021800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:140020400-140020600	Enhancers	Fetal Intestine Large	intestine
32	chr6:140020400-140020600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:140020400-140020800	Enhancers	Ovary	ovary
34	chr6:140020400-140020800	Enhancers	HSMMtube	muscle
35	chr6:140020400-140020800	Enhancers	Osteobl	bone
36	chr6:140020400-140021000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:140020400-140021200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:140020600-140021400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:140020600-140021600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:140020800-140021800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:140021000-140021400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:140021000-140022600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:140021200-140022200	Weak transcription	NHDF-Ad	bronchial
44	chr6:140021400-140023000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:140021600-140022000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr6:140021800-140022600	Enhancers	Pancreas	Pancrea
47	chr6:140022200-140022400	Enhancers	NHDF-Ad	bronchial
48	chr6:140022400-140029200	Weak transcription	NHDF-Ad	bronchial
49	chr6:140022600-140028000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:140023600-140024200	Enhancers	Monocytes-CD14+_RO01746	blood

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