Variant report

Variant	nsv974290
Chromosome Location	chr14:81155152-81161683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIO2-7	chr14:81158750-81159186	l_1018_chr14:81141451-81155425_testes
2	lnc-DIO2-7	chr14:81154768-81155425	l_1018_chr14:81141451-81155425_testes

Extended variants
information (count: 210 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186811884	chr14:81155179-81155180	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs540841488	chr14:81155192-81155193	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557516188	chr14:81155244-81155245	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144429772	chr14:81155320-81155321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs191586436	chr14:81155375-81155376	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs574306842	chr14:81155431-81155432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141180319	chr14:81155432-81155433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562990786	chr14:81155449-81155450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576115684	chr14:81155461-81155462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551813231	chr14:81155470-81155471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368771550	chr14:81155484-81155485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563852374	chr14:81155490-81155491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113641206	chr14:81155527-81155528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147375665	chr14:81155542-81155543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564500178	chr14:81155544-81155545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546801844	chr14:81155610-81155611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140130780	chr14:81155622-81155623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551378434	chr14:81155635-81155636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71412393	chr14:81155655-81155656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57054840	chr14:81155656-81155657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60084942	chr14:81155657-81155658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146828121	chr14:81155659-81155660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12589458	chr14:81155662-81155663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116751569	chr14:81155690-81155691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569230155	chr14:81155693-81155694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188050785	chr14:81155727-81155728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145532676	chr14:81155760-81155761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112805345	chr14:81155878-81155879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147754649	chr14:81155899-81155900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373741011	chr14:81155906-81155907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534113454	chr14:81155937-81155938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537890970	chr14:81155960-81155961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555964508	chr14:81155988-81155989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139954723	chr14:81156014-81156015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544843746	chr14:81156018-81156019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556208396	chr14:81156030-81156031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74393178	chr14:81156038-81156039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540903322	chr14:81156052-81156053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574858157	chr14:81156086-81156087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371608641	chr14:81156087-81156088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374694548	chr14:81156106-81156107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563817512	chr14:81156159-81156160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528223869	chr14:81156162-81156163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149250288	chr14:81156198-81156199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201610322	chr14:81156199-81156200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546469038	chr14:81156241-81156242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561967302	chr14:81156257-81156258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1470640	chr14:81156301-81156302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs1470639	chr14:81156328-81156329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73334800	chr14:81156351-81156352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81147400-81171400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:81148000-81167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:81148400-81167200	Weak transcription	Fetal Thymus	thymus
4	chr14:81149000-81171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:81154000-81157600	Weak transcription	Dnd41	blood
6	chr14:81157600-81157800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:81157600-81158000	Enhancers	Dnd41	blood
8	chr14:81158000-81159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:81158000-81159600	Genic enhancers	Dnd41	blood
10	chr14:81158600-81159600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:81158800-81159600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:81158800-81159600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:81159200-81159600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:81159600-81162400	Weak transcription	Dnd41	blood
15	chr14:81160000-81168400	Weak transcription	Primary T cells from cord blood	blood

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