Variant report

Variant	nsv1054635
Chromosome Location	chr14:44177528-44217800
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44186082..44188263-chr14:44190147..44191676,2	MCF-7	breast:
2	chr14:44196286..44198757-chr14:44200759..44202310,2	MCF-7	breast:
3	chr14:44178956..44181575-chr14:44181768..44183737,3	K562	blood:
4	chr14:44187135..44188917-chr14:44198793..44201549,2	MCF-7	breast:
5	chr14:44186082..44188263-chr14:44190147..44191676,2	MCF-7	breast:
6	chr14:44196286..44198757-chr14:44200759..44202310,2	MCF-7	breast:
7	chr14:44178956..44181575-chr14:44181768..44183737,3	K562	blood:
8	chr14:44205547..44207356-chr14:44208208..44210904,2	MCF-7	breast:
9	chr14:44187135..44188917-chr14:44198793..44201549,2	MCF-7	breast:
10	chr14:44118728..44122212-chr14:44202412..44204725,3	MCF-7	breast:
11	chr14:44118326..44120848-chr14:44211222..44213029,2	MCF-7	breast:
12	chr14:44193372..44194920-chr14:44199439..44201142,2	MCF-7	breast:
13	chr14:44205144..44205757-chr14:44233413..44234104,2	MCF-7	breast:
14	chr14:44193372..44194920-chr14:44199439..44201142,2	MCF-7	breast:
15	chr14:44205547..44207356-chr14:44208208..44210904,2	MCF-7	breast:
16	chr14:44175429..44177063-chr14:44180133..44181778,2	MCF-7	breast:

No data

Extended variants
information (count: 572 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17212484	chr14:44197407-44197408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199877029	chr14:44197438-44197439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138976677	chr14:44197459-44197460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373414161	chr14:44197500-44197501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529948203	chr14:44197505-44197506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113443163	chr14:44197507-44197508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78374163	chr14:44197532-44197533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117455858	chr14:44197604-44197605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527462345	chr14:44197605-44197606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531958180	chr14:44197608-44197609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188604896	chr14:44197643-44197644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555075585	chr14:44197680-44197681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537489437	chr14:44197699-44197700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549804274	chr14:44197780-44197781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376415497	chr14:44197789-44197790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113836941	chr14:44197926-44197927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371120399	chr14:44197946-44197947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536170033	chr14:44197962-44197963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544441798	chr14:44197997-44197998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138117474	chr14:44198002-44198003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566170119	chr14:44198015-44198016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192961321	chr14:44198018-44198019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181398644	chr14:44198037-44198038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149565843	chr14:44198046-44198047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543472823	chr14:44198083-44198084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555356517	chr14:44198084-44198085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573671475	chr14:44198106-44198107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541752960	chr14:44198107-44198108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs118151468	chr14:44198127-44198128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377228047	chr14:44198129-44198130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545973330	chr14:44198161-44198162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17212491	chr14:44198202-44198203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs531442796	chr14:44198206-44198207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144256561	chr14:44198249-44198250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183983788	chr14:44198320-44198321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116110986	chr14:44198327-44198328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575343009	chr14:44198361-44198362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377428482	chr14:44198373-44198374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548141143	chr14:44198389-44198390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148481168	chr14:44198407-44198408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539698865	chr14:44198434-44198435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187169945	chr14:44198436-44198437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570116863	chr14:44198448-44198449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560517983	chr14:44198472-44198473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557931397	chr14:44198486-44198487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs207474754	chr14:44198503-44198504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555421754	chr14:44198515-44198516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573734850	chr14:44198521-44198522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541019975	chr14:44198530-44198531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78933906	chr14:44198541-44198542	Enhancers 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
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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44197400-44208400	Weak transcription	Pancreas	Pancrea
2	chr14:44198000-44199200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:44198000-44199400	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:44198200-44198600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:44198200-44199000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:44198200-44199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:44198200-44199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:44204600-44205200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:44204800-44206000	Enhancers	Hela-S3	cervix
10	chr14:44205200-44205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:44205200-44205800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:44205800-44206200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:44206200-44209800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:44208400-44209200	ZNF genes & repeats	Pancreas	Pancrea
15	chr14:44209800-44210000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:44213600-44214000	Enhancers	Hela-S3	cervix
17	chr14:44214000-44215000	Weak transcription	Hela-S3	cervix
18	chr14:44215000-44215600	Enhancers	Hela-S3	cervix

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