Variant report

Variant	nsv1036858
Chromosome Location	chr14:44595821-44622317
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44370633..44373508-chr14:44616084..44618482,2	MCF-7	breast:
2	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
3	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
4	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:
5	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
6	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
7	chr14:44370246..44372256-chr14:44617257..44619025,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-6	chr14:44622029-44622354	l_977_chr14:44621312-44622966_testes
2	lnc-FSCB-6	chr14:44621821-44621918	l_977_chr14:44621312-44622966_testes
3	lnc-FSCB-6	chr14:44621313-44621629	l_977_chr14:44621312-44622966_testes

No data

Extended variants
information (count: 159 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs149356244	chr14:44605213-44605214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs34460235	chr14:44605229-44605230	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557637878	chr14:44605242-44605243	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs117447894	chr14:44605286-44605287	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144105856	chr14:44605302-44605303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554216997	chr14:44605332-44605333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148686229	chr14:44605347-44605348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184039184	chr14:44605358-44605359	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs1950546	chr14:44605399-44605400	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79769978	chr14:44605403-44605404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577061535	chr14:44605421-44605422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74742942	chr14:44605426-44605427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562809863	chr14:44605430-44605431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189059091	chr14:44605440-44605441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575675550	chr14:44605454-44605455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181006643	chr14:44605455-44605456	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561346062	chr14:44605464-44605465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528638261	chr14:44605489-44605490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185484108	chr14:44605492-44605493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538512977	chr14:44606466-44606467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10150365	chr14:44606505-44606506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565397263	chr14:44606522-44606523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185917563	chr14:44606540-44606541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551186562	chr14:44606541-44606542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562829131	chr14:44606578-44606579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537416423	chr14:44606597-44606598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557751805	chr14:44606613-44606614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10139773	chr14:44606721-44606722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10139865	chr14:44606779-44606780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545357613	chr14:44608403-44608404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549869573	chr14:44608433-44608434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10133756	chr14:44608436-44608437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563025862	chr14:44608440-44608441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534073589	chr14:44608475-44608476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529079366	chr14:44608478-44608479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547648426	chr14:44608489-44608490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554146097	chr14:44608497-44608498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149001805	chr14:44608512-44608513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377110496	chr14:44608525-44608526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531952303	chr14:44608529-44608530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552095132	chr14:44608581-44608582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10146082	chr14:44608583-44608584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs138405715	chr14:44608640-44608641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139365272	chr14:44608660-44608661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35337895	chr14:44608664-44608665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574619414	chr14:44608754-44608755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576417094	chr14:44608765-44608766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75015372	chr14:44608777-44608778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375312268	chr14:44608818-44608819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201794980	chr14:44608834-44608835	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44605200-44605600	Active TSS	A549	lung
2	chr14:44606400-44606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:44608400-44609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:44618800-44619000	Enhancers	Pancreas	Pancrea
5	chr14:44620200-44623600	Weak transcription	Pancreas	Pancrea

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