Variant report

Variant	nsv979131
Chromosome Location	chr2:140974668-140982713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr2:140978716-140978762	GM12878	blood:	n/a	n/a
2	FOS	chr2:140975182-140975382	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr2:140981367-140981654	T-47D	breast:	n/a	n/a
4	MYC	chr2:140982321-140982466	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:140981098-140981137	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:140981915-140982137	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:140977384-140977584	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:140982565-140982756	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRP1B-5	chr2:140978153-140979054	NONHSAT074701
2	lnc-LRP1B-7	chr2:140974566-140974808	NONHSAT074699
3	lnc-LRP1B-6	chr2:140977233-140977937	NONHSAT074700
4	lnc-LRP1B-6	chr2:140975220-140975526	NONHSAT074700

Variant related genes	Relation type
MTND1P27	TF binding region
ENSG00000227149	TF binding region
MTND2P19	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146073948	chr2:140974697-140974698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs548177671	chr2:140974739-140974740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs189058619	chr2:140974745-140974746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs143935124	chr2:140974766-140974767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs181486562	chr2:140974771-140974772	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs181107627	chr2:140975228-140975229	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs547855377	chr2:140975362-140975363	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs199641421	chr2:140975379-140975380	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs373112808	chr2:140975380-140975381	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs111761387	chr2:140975399-140975400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs112890084	chr2:140975412-140975413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs201911370	chr2:140975426-140975427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs532950086	chr2:140975491-140975492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs568082252	chr2:140975497-140975498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs185989099	chr2:140975510-140975511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs72900445	chr2:140977269-140977270	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188544479	chr2:140977272-140977273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191843592	chr2:140977275-140977276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs560024838	chr2:140977346-140977347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs564597249	chr2:140977415-140977416	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs533314216	chr2:140977420-140977421	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs183125752	chr2:140977466-140977467	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs566790419	chr2:140977524-140977525	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs150898148	chr2:140977549-140977550	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs529261772	chr2:140977571-140977572	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs549234684	chr2:140977578-140977579	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs114795517	chr2:140977617-140977618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs77042854	chr2:140977644-140977645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs537000852	chr2:140977678-140977679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs186961641	chr2:140977694-140977695	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs543306258	chr2:140977703-140977704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs375782185	chr2:140977706-140977707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556954395	chr2:140977707-140977708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs553712969	chr2:140977722-140977723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs573529494	chr2:140977782-140977783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs542649107	chr2:140977813-140977814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs556457141	chr2:140977833-140977834	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs576446773	chr2:140977838-140977839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs150180321	chr2:140977843-140977844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs191540747	chr2:140977884-140977885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs551928490	chr2:140978158-140978159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs571781491	chr2:140978176-140978177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs374486875	chr2:140978237-140978238	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs547131119	chr2:140978278-140978279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs138725292	chr2:140978307-140978308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs4954671	chr2:140978431-140978432	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556242942	chr2:140978483-140978484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs576385460	chr2:140978491-140978492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs183695917	chr2:140978495-140978496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs186472926	chr2:140978516-140978517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Mental retardation	17621639	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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