Variant report

Variant	esv3445282
Chromosome Location	chr14:43818251-43858162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
2	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
3	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
4	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:

Extended variants
information (count: 975 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542070829	chr14:43818254-43818255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371486072	chr14:43818278-43818279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138075389	chr14:43818287-43818288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142387944	chr14:43818288-43818289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145936636	chr14:43818320-43818321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138625517	chr14:43818368-43818369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542564776	chr14:43818397-43818398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556249484	chr14:43818404-43818405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184259740	chr14:43818441-43818442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189207118	chr14:43818464-43818465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193243367	chr14:43818491-43818492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576041005	chr14:43818516-43818517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545227961	chr14:43818522-43818523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565070256	chr14:43818539-43818540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185736807	chr14:43818588-43818589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562844451	chr14:43818599-43818600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543715440	chr14:43818648-43818649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562419755	chr14:43818656-43818657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529437487	chr14:43818671-43818672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79209418	chr14:43818705-43818706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188977969	chr14:43818755-43818756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533288677	chr14:43818766-43818767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530502427	chr14:43818774-43818775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181702813	chr14:43818776-43818777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61998416	chr14:43818811-43818812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537469997	chr14:43818823-43818824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556159879	chr14:43818848-43818849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561133972	chr14:43818904-43818905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568374066	chr14:43818909-43818910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535629786	chr14:43818918-43818919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554050533	chr14:43818925-43818926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572169704	chr14:43818949-43818950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530130203	chr14:43818979-43818980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545868543	chr14:43819063-43819064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549885195	chr14:43819069-43819070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12893787	chr14:43819112-43819113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565221206	chr14:43819155-43819156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144475022	chr14:43819182-43819183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12895157	chr14:43819230-43819231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186143148	chr14:43819254-43819255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529624225	chr14:43819271-43819272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2805841	chr14:43819306-43819307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148564149	chr14:43819311-43819312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369101488	chr14:43819316-43819317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372848557	chr14:43819374-43819375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559564919	chr14:43819434-43819435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533349287	chr14:43819465-43819466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551430111	chr14:43819489-43819490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563829062	chr14:43819523-43819524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530792692	chr14:43819535-43819536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43816600-43829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43825800-43827200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:43826000-43826800	Enhancers	Pancreas	Pancrea
4	chr14:43826000-43827200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr14:43826200-43826800	Enhancers	Fetal Lung	lung
6	chr14:43826800-43828400	Weak transcription	Pancreas	Pancrea
7	chr14:43826800-43830800	Weak transcription	Fetal Lung	lung
8	chr14:43826800-43839400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:43828400-43829800	Enhancers	Pancreas	Pancrea
10	chr14:43829600-43829800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:43829800-43830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:43829800-43831800	Weak transcription	Pancreas	Pancrea
13	chr14:43830800-43831600	Enhancers	Fetal Lung	lung
14	chr14:43831600-43834000	Weak transcription	Fetal Lung	lung
15	chr14:43831800-43832000	Enhancers	Pancreas	Pancrea
16	chr14:43834000-43834200	Enhancers	Fetal Lung	lung
17	chr14:43839000-43840000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:43839400-43839800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:43839400-43840000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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