Variant report

Variant	nsv979107
Chromosome Location	chr2:114278648-114293382
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	chr2:114284812..114285348-chr2:114457736..114458446,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC016745.1-1	chr2:114292137-114292293	ENSG00000231943
2	lnc-AC016745.1-1	chr2:114286224-114286679	ENSG00000231943
3	lnc-AC016745.1-1	chr2:114285145-114285229	ENSG00000231943
4	lnc-AC016745.1-1	chr2:114286497-114286679	ENSG00000231943

Extended variants
information (count: 36 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566210124	chr2:114285228-114285229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535206989	chr2:114285229-114285230	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs545429510	chr2:114285466-114285467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552630459	chr2:114285469-114285470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11123192	chr2:114285471-114285472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140735642	chr2:114285509-114285510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73955036	chr2:114285563-114285564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11123193	chr2:114285568-114285569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201670909	chr2:114285585-114285586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73955037	chr2:114285716-114285717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182694182	chr2:114285722-114285723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11123194	chr2:114285725-114285726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11123195	chr2:114285733-114285734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556411811	chr2:114285752-114285753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199936959	chr2:114285753-114285754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201279147	chr2:114285754-114285755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202124323	chr2:114285756-114285757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199947537	chr2:114285757-114285758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200967357	chr2:114285758-114285759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112905363	chr2:114285767-114285768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141038088	chr2:114286323-114286324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2260363	chr2:114286331-114286332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537667509	chr2:114286360-114286361	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs557356282	chr2:114286364-114286365	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs570839853	chr2:114286365-114286366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs539044390	chr2:114286375-114286376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552589243	chr2:114286376-114286377	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs144758338	chr2:114286381-114286382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs541513691	chr2:114286502-114286503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs1739538	chr2:114286515-114286516	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
31	rs79297425	chr2:114286527-114286528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs116540922	chr2:114286531-114286532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs543471877	chr2:114286563-114286564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs564349690	chr2:114286617-114286618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs199762792	chr2:114292179-114292180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs199923372	chr2:114292181-114292182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114285400-114285800	Enhancers	Dnd41	blood

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