Variant report

Variant	nsv970705
Chromosome Location	chr6:140846926-140858350
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	chr6:140853689..140855207-chr6:140859396..140862006,2	MCF-7	breast:
2	chr6:139694080..139696813-chr6:140857145..140860019,3	MCF-7	breast:
3	chr6:140857240..140860582-chr6:140860847..140863194,3	MCF-7	breast:
4	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:
5	chr20:55766654..55769141-chr6:140857545..140859135,2	MCF-7	breast:
6	chr6:140843664..140845926-chr6:140846487..140848219,2	MCF-7	breast:
7	chr6:140858084..140862104-chr6:140862610..140866313,5	MCF-7	breast:
8	chr6:140847082..140849517-chr6:140851014..140853336,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566195714	chr6:140850854-140850855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533936494	chr6:140850881-140850882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564052718	chr6:140850884-140850885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555542320	chr6:140850917-140850918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189614099	chr6:140850953-140850954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538134590	chr6:140850956-140850957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532953941	chr6:140851002-140851003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546629721	chr6:140851017-140851018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564967022	chr6:140851042-140851043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556219297	chr6:140851045-140851046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180867528	chr6:140851051-140851052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577106319	chr6:140851114-140851115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35728512	chr6:140851147-140851148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544625024	chr6:140851158-140851159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185713552	chr6:140851193-140851194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79437410	chr6:140851214-140851215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376000612	chr6:140851217-140851218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62429844	chr6:140851244-140851245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374738076	chr6:140851260-140851261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561527463	chr6:140851261-140851262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190070938	chr6:140851282-140851283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544074627	chr6:140851304-140851305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371378660	chr6:140851328-140851329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3899669	chr6:140851338-140851339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548871628	chr6:140851356-140851357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115315358	chr6:140851392-140851393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181639089	chr6:140851402-140851403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569021274	chr6:140851441-140851442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547823945	chr6:140851442-140851443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141684720	chr6:140851508-140851509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74334580	chr6:140851509-140851510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375902559	chr6:140851595-140851596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529945187	chr6:140854261-140854262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375409837	chr6:140854338-140854339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528933096	chr6:140854389-140854390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115203792	chr6:140854437-140854438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569536108	chr6:140854455-140854456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561792619	chr6:140854467-140854468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72979878	chr6:140854485-140854486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111399179	chr6:140854489-140854490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535188022	chr6:140854654-140854655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553606196	chr6:140854669-140854670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575023092	chr6:140854682-140854683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34116898	chr6:140854683-140854684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116918403	chr6:140854690-140854691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557668383	chr6:140854720-140854721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9484400	chr6:140854729-140854730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs180903625	chr6:140854765-140854766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59935701	chr6:140854789-140854790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573007224	chr6:140854866-140854867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140850800-140851400	Weak transcription	NHDF-Ad	bronchial
2	chr6:140851400-140851600	Enhancers	NHDF-Ad	bronchial
3	chr6:140854200-140855800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:140855400-140857600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:140855600-140857400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:140855600-140857800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:140855800-140857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:140856200-140856400	Weak transcription	Psoas Muscle	Psoas
9	chr6:140856400-140856800	Active TSS	Fetal Heart	heart
10	chr6:140856400-140860200	Weak transcription	Left Ventricle	heart
11	chr6:140856600-140857000	ZNF genes & repeats	Psoas Muscle	Psoas
12	chr6:140856600-140857000	ZNF genes & repeats	Osteobl	bone
13	chr6:140856800-140858000	Weak transcription	Fetal Heart	heart
14	chr6:140857000-140857600	Weak transcription	Osteobl	bone
15	chr6:140857000-140858400	Weak transcription	Psoas Muscle	Psoas
16	chr6:140857200-140861000	Enhancers	NHLF	lung
17	chr6:140857400-140857600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:140857400-140858200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:140857600-140858200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:140857600-140858400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:140857600-140858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:140857600-140858400	Enhancers	NHDF-Ad	bronchial
23	chr6:140857600-140858400	Enhancers	Osteobl	bone
24	chr6:140857600-140860400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:140857800-140858200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:140858000-140858800	Enhancers	Fetal Heart	heart
27	chr6:140858200-140858400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:140858200-140858400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:140858200-140858400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:140858200-140858400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:140858200-140858400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:140858200-140858400	Enhancers	NH-A	brain
33	chr6:140858200-140858600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:140858200-140859000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:140858200-140859000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:140858200-140860400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:140858200-140860400	Enhancers	Rectal Smooth Muscle	rectum

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