Variant report

Variant	nsv886723
Chromosome Location	chr6:141399812-141453145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:
2	chr6:141450586..141452410-chr6:141456165..141457885,2	K562	blood:

Extended variants
information (count: 1128 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1819632	chr6:141399812-141399813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139478145	chr6:141399858-141399859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144291683	chr6:141399901-141399902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557725106	chr6:141399905-141399906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565167835	chr6:141399924-141399925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573022987	chr6:141399946-141399947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533851861	chr6:141399953-141399954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556030852	chr6:141399954-141399955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377579820	chr6:141399957-141399958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111382188	chr6:141400007-141400008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549115154	chr6:141400023-141400024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568760051	chr6:141400042-141400043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369183793	chr6:141400057-141400058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184010387	chr6:141400060-141400061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377371819	chr6:141400158-141400159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147808561	chr6:141400166-141400167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562995695	chr6:141400186-141400187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577979539	chr6:141400194-141400195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190261251	chr6:141400196-141400197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181721834	chr6:141400209-141400210	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187655601	chr6:141400239-141400240	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549028316	chr6:141400241-141400242	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374372065	chr6:141400274-141400275	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561567436	chr6:141400308-141400309	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190287421	chr6:141400342-141400343	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181784524	chr6:141400361-141400362	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569097353	chr6:141400363-141400364	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533253983	chr6:141400404-141400405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551118797	chr6:141400439-141400440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185131092	chr6:141400447-141400448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533891042	chr6:141400469-141400470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75646781	chr6:141400473-141400474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117384771	chr6:141400486-141400487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538016040	chr6:141400495-141400496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556709625	chr6:141400501-141400502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578206441	chr6:141400568-141400569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571288258	chr6:141400624-141400625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117275020	chr6:141400628-141400629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371964274	chr6:141400648-141400649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142534922	chr6:141400673-141400674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572077751	chr6:141400811-141400812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80186603	chr6:141400860-141400861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144827981	chr6:141400898-141400899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200827108	chr6:141400916-141400917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145846289	chr6:141400960-141400961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376844735	chr6:141401042-141401043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140898024	chr6:141401064-141401065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189550850	chr6:141401065-141401066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562681872	chr6:141401097-141401098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79897230	chr6:141401105-141401106	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141399200-141400200	Enhancers	Liver	Liver
2	chr6:141400200-141400400	Flanking Active TSS	Liver	Liver
3	chr6:141400400-141403200	Enhancers	Liver	Liver
4	chr6:141403200-141404400	Weak transcription	Liver	Liver
5	chr6:141404400-141405800	Enhancers	Liver	Liver
6	chr6:141405800-141408800	Weak transcription	Liver	Liver
7	chr6:141408000-141408400	Enhancers	Fetal Brain Female	brain
8	chr6:141408800-141410200	Enhancers	Liver	Liver
9	chr6:141419800-141426800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:141422000-141422200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:141423200-141423600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:141423200-141424600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:141423800-141425000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:141424200-141424600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:141424200-141424800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:141424200-141424800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:141424200-141424800	Enhancers	HMEC	breast
18	chr6:141424200-141424800	Enhancers	HUVEC	blood vessel
19	chr6:141424200-141425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:141424200-141425000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:141424200-141425000	Enhancers	NHDF-Ad	bronchial
22	chr6:141424600-141424800	Enhancers	Osteobl	bone
23	chr6:141424600-141425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:141424600-141427000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:141424800-141425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:141424800-141426600	Weak transcription	HMEC	breast
27	chr6:141424800-141426800	Weak transcription	Osteobl	bone
28	chr6:141424800-141428400	Weak transcription	HUVEC	blood vessel
29	chr6:141424800-141431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:141425000-141426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:141425000-141426600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:141425000-141426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:141425000-141426600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:141425000-141426600	Weak transcription	NHDF-Ad	bronchial
35	chr6:141425000-141431600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:141426000-141426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:141426200-141426400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:141426400-141426600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:141426400-141427000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:141426400-141427000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:141426400-141427200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:141426400-141427200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:141426400-141427600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:141426400-141427800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:141426400-141428000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:141426400-141428000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:141426400-141428400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:141426400-141429000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:141426400-141429000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:141426600-141426800	Enhancers	Fetal Heart	heart

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