Variant report

Variant	nsv1052994
Chromosome Location	chr14:44267473-44303540
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	chr14:44302474..44305350-chr6:53571306..53573841,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf28-3	chr14:44270413-44270454	NONHSAT036601

Extended variants
information (count: 347 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17278488	chr14:44267473-44267474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568447058	chr14:44267482-44267483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535581657	chr14:44267511-44267512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557730478	chr14:44267524-44267525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553920563	chr14:44267554-44267555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572321652	chr14:44267598-44267599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539697477	chr14:44267615-44267616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368918513	chr14:44267646-44267647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558165029	chr14:44267654-44267655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200460690	chr14:44267656-44267657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192887263	chr14:44267692-44267693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78460976	chr14:44267709-44267710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140800246	chr14:44267770-44267771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546462679	chr14:44267783-44267784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566701262	chr14:44267849-44267850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573747930	chr14:44267858-44267859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184899493	chr14:44267872-44267873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559550259	chr14:44267890-44267891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140764479	chr14:44267898-44267899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533166548	chr14:44267907-44267908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551602425	chr14:44267909-44267910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57145958	chr14:44267939-44267940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74780040	chr14:44267966-44267967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555026877	chr14:44268415-44268416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147780203	chr14:44268416-44268417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573686848	chr14:44268482-44268483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541083815	chr14:44268493-44268494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141821869	chr14:44268507-44268508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202036577	chr14:44270425-44270426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs139220492	chr14:44270433-44270434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs369624397	chr14:44271814-44271815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74567197	chr14:44271825-44271826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376535066	chr14:44271864-44271865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193002168	chr14:44271874-44271875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560465957	chr14:44271893-44271894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2415828	chr14:44271894-44271895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147763976	chr14:44271901-44271902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115869984	chr14:44271940-44271941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77306093	chr14:44271945-44271946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562735041	chr14:44271963-44271964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184855920	chr14:44271999-44272000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370454999	chr14:44272002-44272003	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568411536	chr14:44272003-44272004	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112696560	chr14:44272004-44272005	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536639510	chr14:44272014-44272015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369795411	chr14:44272054-44272055	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187829185	chr14:44272093-44272094	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573345680	chr14:44272114-44272115	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191697767	chr14:44272130-44272131	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145071347	chr14:44272135-44272136	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Mortal	21835882	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44266600-44268000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr14:44268400-44268600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:44271800-44273000	Enhancers	Hela-S3	cervix
4	chr14:44272000-44272800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:44272200-44272600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:44272200-44273000	Enhancers	HepG2	liver
7	chr14:44272400-44272600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:44272600-44275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:44273000-44273800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:44275000-44275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:44276800-44278000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:44280800-44281400	Enhancers	Adipose Nuclei	Adipose
13	chr14:44302000-44303600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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