Variant report

Variant	esv3331728
Chromosome Location	chr6:141456559-141461057
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	chr6:141450586..141452410-chr6:141456165..141457885,2	K562	blood:
2	chr6:141457381..141459115-chr6:141461082..141463007,2	MCF-7	breast:

Extended variants
information (count: 153 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs374995338	chr6:141456571-141456572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563553950	chr6:141456614-141456615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568176995	chr6:141456776-141456777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183999481	chr6:141456835-141456836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371727054	chr6:141456845-141456846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554722331	chr6:141456846-141456847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189219645	chr6:141456854-141456855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537377755	chr6:141456867-141456868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79570916	chr6:141456877-141456878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376988948	chr6:141456960-141456961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576950823	chr6:141456981-141456982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181584375	chr6:141456983-141456984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187362420	chr6:141457005-141457006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140022269	chr6:141457052-141457053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35154879	chr6:141457090-141457091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542456567	chr6:141457106-141457107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369594691	chr6:141457148-141457149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78182173	chr6:141457162-141457163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372553745	chr6:141457178-141457179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575729122	chr6:141457199-141457200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546522676	chr6:141457201-141457202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564615322	chr6:141457270-141457271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528478341	chr6:141457339-141457340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1563051	chr6:141457362-141457363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534341311	chr6:141457380-141457381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540947238	chr6:141457392-141457393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9495905	chr6:141457418-141457419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190706343	chr6:141457435-141457436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373963849	chr6:141457461-141457462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1037440	chr6:141457516-141457517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs368741828	chr6:141457536-141457537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572974354	chr6:141457552-141457553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569877760	chr6:141457586-141457587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181996013	chr6:141457613-141457614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140506376	chr6:141457631-141457632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573724590	chr6:141457649-141457650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186107820	chr6:141457651-141457652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534623080	chr6:141457695-141457696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1037441	chr6:141457722-141457723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs574468647	chr6:141457743-141457744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535565849	chr6:141457774-141457775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556778086	chr6:141457857-141457858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189559231	chr6:141457861-141457862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376212350	chr6:141457865-141457866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546041578	chr6:141457869-141457870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182680101	chr6:141457877-141457878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150017118	chr6:141457899-141457900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575097352	chr6:141457907-141457908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540249270	chr6:141457945-141457946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561783926	chr6:141457970-141457971	Weak transcription	n/a	n/a	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
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
Medulloblastoma	21163964	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141453800-141457000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:141455600-141456600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:141456600-141456800	Enhancers	Aorta	Aorta
4	chr6:141456600-141457000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:141456600-141461600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:141456800-141460200	Weak transcription	Aorta	Aorta
7	chr6:141458600-141459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:141459000-141460800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:141460200-141460400	Enhancers	Aorta	Aorta
10	chr6:141460800-141463800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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