Variant report

Variant	nsv886724
Chromosome Location	chr6:141404097-141457362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1101 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1101 , 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	rs370467294	chr6:141404153-141404154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552564187	chr6:141404183-141404184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570859073	chr6:141404188-141404189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528452628	chr6:141404202-141404203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186067023	chr6:141404221-141404222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547005846	chr6:141404229-141404230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568616205	chr6:141404312-141404313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535554654	chr6:141404340-141404341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542493991	chr6:141404348-141404349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554783771	chr6:141404400-141404401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76501472	chr6:141404404-141404405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188332358	chr6:141404405-141404406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558384078	chr6:141404410-141404411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371460506	chr6:141404417-141404418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113171295	chr6:141404448-141404449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534358634	chr6:141404460-141404461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552548272	chr6:141404472-141404473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529879343	chr6:141404473-141404474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186706616	chr6:141404552-141404553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74721724	chr6:141404555-141404556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191093567	chr6:141404628-141404629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531508099	chr6:141404678-141404679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183162356	chr6:141404697-141404698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141212393	chr6:141404714-141404715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528790110	chr6:141404725-141404726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144989864	chr6:141404759-141404760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562048605	chr6:141404763-141404764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529404937	chr6:141404808-141404809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200863897	chr6:141404813-141404814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201514473	chr6:141404814-141404815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202019109	chr6:141404819-141404820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs398048897	chr6:141404820-141404821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550769213	chr6:141404821-141404822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200136556	chr6:141404822-141404823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146804642	chr6:141404852-141404853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143535435	chr6:141404938-141404939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186821194	chr6:141404939-141404940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534585669	chr6:141404945-141404946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552587099	chr6:141404967-141404968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574320529	chr6:141405007-141405008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148030334	chr6:141405025-141405026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556738858	chr6:141405064-141405065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575286841	chr6:141405110-141405111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141756617	chr6:141405114-141405115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564646854	chr6:141405116-141405117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112703537	chr6:141405166-141405167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540893959	chr6:141405185-141405186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190483918	chr6:141405191-141405192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529226628	chr6:141405201-141405202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55910319	chr6:141405309-141405310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141403200-141404400	Weak transcription	Liver	Liver
2	chr6:141404400-141405800	Enhancers	Liver	Liver
3	chr6:141405800-141408800	Weak transcription	Liver	Liver
4	chr6:141408000-141408400	Enhancers	Fetal Brain Female	brain
5	chr6:141408800-141410200	Enhancers	Liver	Liver
6	chr6:141419800-141426800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:141422000-141422200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:141423200-141423600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:141423200-141424600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:141423800-141425000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:141424200-141424600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:141424200-141424800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:141424200-141424800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:141424200-141424800	Enhancers	HMEC	breast
15	chr6:141424200-141424800	Enhancers	HUVEC	blood vessel
16	chr6:141424200-141425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:141424200-141425000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:141424200-141425000	Enhancers	NHDF-Ad	bronchial
19	chr6:141424600-141424800	Enhancers	Osteobl	bone
20	chr6:141424600-141425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:141424600-141427000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:141424800-141425000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:141424800-141426600	Weak transcription	HMEC	breast
24	chr6:141424800-141426800	Weak transcription	Osteobl	bone
25	chr6:141424800-141428400	Weak transcription	HUVEC	blood vessel
26	chr6:141424800-141431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:141425000-141426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:141425000-141426600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:141425000-141426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:141425000-141426600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:141425000-141426600	Weak transcription	NHDF-Ad	bronchial
32	chr6:141425000-141431600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:141426000-141426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:141426200-141426400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:141426400-141426600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:141426400-141427000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:141426400-141427000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:141426400-141427200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:141426400-141427200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:141426400-141427600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:141426400-141427800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:141426400-141428000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:141426400-141428000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:141426400-141428400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:141426400-141429000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:141426400-141429000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:141426600-141426800	Enhancers	Fetal Heart	heart
48	chr6:141426600-141427000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr6:141426600-141427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:141426600-141427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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