Variant report

Variant	nsv1037990
Chromosome Location	chr14:43630817-43709928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:43627304..43628817-chr14:43633953..43636435,2	MCF-7	breast:
2	chr14:43670589..43672265-chr14:43673171..43675678,2	MCF-7	breast:
3	chr14:43632646..43635519-chr14:43636829..43638546,2	K562	blood:
4	chr14:43574936..43576620-chr14:43639722..43642380,2	MCF-7	breast:
5	chr14:43670589..43672265-chr14:43673171..43675678,2	MCF-7	breast:
6	chr14:43698955..43701264-chr14:43718392..43721075,2	MCF-7	breast:
7	chr14:43632646..43635519-chr14:43636829..43638546,2	K562	blood:

Extended variants
information (count: 725 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12232158	chr14:43630817-43630818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs8005943	chr14:43630899-43630900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78416849	chr14:43630900-43630901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545524232	chr14:43630906-43630907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563529392	chr14:43630914-43630915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143153873	chr14:43630957-43630958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550059152	chr14:43630965-43630966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185373024	chr14:43630970-43630971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529068628	chr14:43630989-43630990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547250413	chr14:43631018-43631019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565899523	chr14:43631037-43631038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12147683	chr14:43631056-43631057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528463416	chr14:43631099-43631100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551462369	chr14:43631100-43631101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563017854	chr14:43631148-43631149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74047576	chr14:43631150-43631151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190815615	chr14:43631194-43631195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117426323	chr14:43631255-43631256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181692801	chr14:43631302-43631303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553283063	chr14:43631317-43631318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs8012041	chr14:43631351-43631352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs369193848	chr14:43631360-43631361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371015986	chr14:43631420-43631421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557599473	chr14:43631446-43631447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563812694	chr14:43631468-43631469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147483122	chr14:43631472-43631473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11849781	chr14:43631485-43631486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs111800240	chr14:43631525-43631526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561293464	chr14:43631530-43631531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79762948	chr14:43631565-43631566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547708039	chr14:43631618-43631619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184453383	chr14:43631649-43631650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74981124	chr14:43631673-43631674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551157389	chr14:43631740-43631741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553373628	chr14:43631832-43631833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572035623	chr14:43631864-43631865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74047577	chr14:43631916-43631917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139282135	chr14:43631924-43631925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72668993	chr14:43631927-43631928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554282217	chr14:43631931-43631932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574200924	chr14:43631934-43631935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531525690	chr14:43632009-43632010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535003167	chr14:43632032-43632033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553631393	chr14:43632055-43632056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377109441	chr14:43632075-43632076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539236198	chr14:43632099-43632100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557145238	chr14:43632128-43632129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79237605	chr14:43632168-43632169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149722070	chr14:43632195-43632196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144529898	chr14:43632278-43632279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Breast cancer	22522925	CNVD
Melanoma	17363583	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43630200-43631000	Enhancers	A549	lung
2	chr14:43631000-43634600	Weak transcription	A549	lung
3	chr14:43634600-43635000	Active TSS	A549	lung
4	chr14:43634600-43636600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:43635000-43635200	Flanking Active TSS	A549	lung
6	chr14:43635200-43635400	Enhancers	A549	lung
7	chr14:43635400-43635600	Flanking Active TSS	A549	lung
8	chr14:43635600-43636200	Enhancers	A549	lung
9	chr14:43636200-43637600	Weak transcription	A549	lung
10	chr14:43636600-43637000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:43636800-43637000	Enhancers	Fetal Intestine Small	intestine
12	chr14:43636800-43638800	Enhancers	Fetal Intestine Large	intestine
13	chr14:43637000-43637600	Weak transcription	Fetal Intestine Small	intestine
14	chr14:43637000-43637800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:43637600-43637800	Enhancers	A549	lung
16	chr14:43637600-43638800	Enhancers	Fetal Intestine Small	intestine
17	chr14:43637800-43638200	Enhancers	Fetal Lung	lung
18	chr14:43637800-43638200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:43638200-43638600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:43638200-43641800	Weak transcription	Fetal Lung	lung
21	chr14:43638800-43641800	Weak transcription	Fetal Intestine Large	intestine
22	chr14:43641200-43643200	Enhancers	Liver	Liver
23	chr14:43641800-43642200	Enhancers	Fetal Lung	lung
24	chr14:43641800-43643200	Enhancers	Fetal Intestine Large	intestine
25	chr14:43642200-43645000	Weak transcription	Fetal Lung	lung
26	chr14:43645000-43645400	Enhancers	Fetal Lung	lung
27	chr14:43652000-43653600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:43652000-43654400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:43652000-43654600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr14:43652200-43653800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:43652200-43654400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:43652200-43654400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:43653200-43654000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:43653800-43654200	Enhancers	Ovary	ovary
35	chr14:43653800-43654400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr14:43657400-43657800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:43657800-43658200	Enhancers	Fetal Intestine Large	intestine

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