Variant report

Variant	nsv976334
Chromosome Location	chr14:45231158-45232595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
2	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
3	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL28-3	chr14:45232360-45234829	ENSG00000258998

Extended variants
information (count: 58 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140145509	chr14:45231215-45231216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186839432	chr14:45231239-45231240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574641643	chr14:45231254-45231255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542113043	chr14:45231278-45231279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373535818	chr14:45231281-45231282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575014706	chr14:45231282-45231283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551449934	chr14:45231300-45231301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191734139	chr14:45231314-45231315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530082772	chr14:45231354-45231355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182547208	chr14:45231359-45231360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540706183	chr14:45231389-45231390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537788527	chr14:45231419-45231420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186862055	chr14:45231425-45231426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371588638	chr14:45231437-45231438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190071255	chr14:45231438-45231439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143822996	chr14:45231492-45231493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146807146	chr14:45231513-45231514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557129767	chr14:45231579-45231580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576976379	chr14:45231581-45231582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369665280	chr14:45231587-45231588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182356298	chr14:45231595-45231596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566695621	chr14:45231625-45231626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534105245	chr14:45231638-45231639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374539469	chr14:45231674-45231675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547040567	chr14:45231728-45231729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187785973	chr14:45231735-45231736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537596692	chr14:45231799-45231800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555841126	chr14:45231824-45231825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114390712	chr14:45231841-45231842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193113221	chr14:45231850-45231851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185571183	chr14:45231857-45231858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188387869	chr14:45231864-45231865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs229710	chr14:45231871-45231872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191993900	chr14:45231874-45231875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564317226	chr14:45231892-45231893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149971407	chr14:45231908-45231909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57313556	chr14:45231919-45231920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184487433	chr14:45231949-45231950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566806532	chr14:45231955-45231956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113985186	chr14:45231956-45231957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548321102	chr14:45231959-45231960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560398271	chr14:45231998-45231999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528019674	chr14:45232003-45232004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112394372	chr14:45232008-45232009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570715515	chr14:45232039-45232040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531269469	chr14:45232059-45232060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531298957	chr14:45232196-45232197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148900941	chr14:45232208-45232209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567937347	chr14:45232297-45232298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201079290	chr14:45232309-45232310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	17363583	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45228200-45231200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:45229200-45236600	Weak transcription	Fetal Lung	lung

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