Variant report

Variant	esv1805364
Chromosome Location	chr6:141051437-141055590
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	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs1879505	chr6:141051437-141051438	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568679444	chr6:141051475-141051476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1521147	chr6:141051480-141051481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557689742	chr6:141051486-141051487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575675472	chr6:141051505-141051506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561053011	chr6:141051558-141051559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117888126	chr6:141051578-141051579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558159626	chr6:141051592-141051593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574392214	chr6:141051597-141051598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1521146	chr6:141051626-141051627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540759655	chr6:141051645-141051646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184120089	chr6:141051651-141051652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574293346	chr6:141051654-141051655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376129591	chr6:141051683-141051684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188671434	chr6:141051719-141051720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12530226	chr6:141051731-141051732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530399613	chr6:141051743-141051744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73569704	chr6:141051751-141051752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564144556	chr6:141051752-141051753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193234145	chr6:141051804-141051805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1521145	chr6:141051823-141051824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147168322	chr6:141051826-141051827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529520548	chr6:141051828-141051829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138440501	chr6:141051865-141051866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569548939	chr6:141051935-141051936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143748353	chr6:141051990-141051991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77652402	chr6:141052003-141052004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557856623	chr6:141052052-141052053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566902794	chr6:141052072-141052073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182722094	chr6:141052079-141052080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370602606	chr6:141052101-141052102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150683887	chr6:141052158-141052159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371576528	chr6:141052198-141052199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374054901	chr6:141052214-141052215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574255346	chr6:141052264-141052265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541647503	chr6:141052344-141052345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548888918	chr6:141052352-141052353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368115739	chr6:141052380-141052381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556768291	chr6:141052381-141052382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575177389	chr6:141052427-141052428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546120709	chr6:141052440-141052441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7740416	chr6:141052462-141052463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370099443	chr6:141052475-141052476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528092509	chr6:141052487-141052488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539909694	chr6:141052490-141052491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186777799	chr6:141052532-141052533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191782119	chr6:141052542-141052543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184005378	chr6:141052580-141052581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149864400	chr6:141052650-141052651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2460956	chr6:141052659-141052660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141047600-141054800	Weak transcription	NHDF-Ad	bronchial
2	chr6:141049800-141051800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:141051000-141052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:141051200-141051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:141051600-141051800	Enhancers	Psoas Muscle	Psoas
6	chr6:141051800-141053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:141052400-141053800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:141052600-141052800	Enhancers	Osteobl	bone
9	chr6:141052600-141053200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:141052600-141053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:141052800-141053200	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:141053000-141053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:141053200-141057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:141053400-141057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:141053800-141057400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:141054600-141055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:141054800-141055200	Enhancers	NHDF-Ad	bronchial
18	chr6:141054800-141055200	Enhancers	Osteobl	bone
19	chr6:141055000-141057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:141055200-141057200	Weak transcription	Osteobl	bone
21	chr6:141055200-141057600	Weak transcription	NHDF-Ad	bronchial

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