Variant report

Variant	nsv10047
Chromosome Location	chr2:77893595-77917558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:77893819-77894063	HepG2	liver:	n/a	chr2:77893930-77893941
2	CEBPB	chr2:77893984-77894002	A549	lung:	n/a	n/a
3	CEBPB	chr2:77893764-77894088	HepG2	liver:	n/a	chr2:77893930-77893941
4	CTCF	chr2:77908119-77908252	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:77911824-77911827	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:77906948-77906955	A549	lung:	n/a	n/a
7	CTCF	chr2:77910433-77910451	A549	lung:	n/a	n/a
8	CTCF	chr2:77905343-77905404	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr2:77908100-77908251	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:77912217-77912259	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:77903046-77903106	GM20000	blood:	n/a	n/a
12	CTCF	chr2:77911786-77911819	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:77912182-77912185	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr2:77908184-77908198	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:77916558-77916601	Medullo	brain:	n/a	n/a
16	CTCF	chr2:77912188-77912297	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:77910310-77910325	Medullo	brain:	n/a	n/a
18	CTCF	chr2:77912187-77912293	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr2:77916168-77916219	Medullo	brain:	n/a	n/a
20	CTCF	chr2:77911764-77911784	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:77916774-77916889	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr2:77894725-77894782	GM10266	blood:	n/a	n/a
23	CTCF	chr2:77906916-77906944	A549	lung:	n/a	n/a
24	EP300	chr2:77893717-77894171	HepG2	liver:	n/a	n/a
25	EP300	chr2:77893873-77893901	HepG2	liver:	n/a	n/a
26	EP300	chr2:77893798-77894107	HepG2	liver:	n/a	n/a
27	FOSL2	chr2:77893830-77894142	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:77893629-77894136	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:77893740-77894142	HepG2	liver:	n/a	n/a
30	FOXA1	chr2:77893691-77894101	HepG2	liver:	n/a	n/a
31	FOXA2	chr2:77893722-77894056	HepG2	liver:	n/a	n/a
32	GATA2	chr2:77912081-77912347	SH-SY5Y	brain:	n/a	n/a
33	MYBL2	chr2:77893672-77894149	HepG2	liver:	n/a	n/a
34	MYC	chr2:77911722-77911847	MCF-7	breast:	n/a	n/a
35	MYC	chr2:77910387-77910490	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:77897513-77897694	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:77895586-77895634	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:77910289-77910504	A549	lung:	n/a	n/a
39	POLR2A	chr2:77911707-77911834	Gliobla	brain:	n/a	n/a
40	POLR2A	chr2:77902152-77902355	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:77910265-77910328	MCF-7	breast:	n/a	n/a
42	POLR2A	chr2:77911707-77911962	A549	lung:	n/a	n/a
43	POLR2A	chr2:77916820-77916931	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:77910450-77910487	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:77910387-77910436	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:77898778-77898888	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:77896417-77896425	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:77910394-77910538	MCF-7	breast:	n/a	n/a
49	POLR2A	chr2:77910351-77910375	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:77908120-77908143	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:77914010..77915510-chr20:60019091..60020639,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-5	chr2:77900177-77900918	XLOC_001541
2	lnc-REG3G-5	chr2:77899341-77899395	XLOC_001541

No data

Variant related genes	Relation type
ENSG00000230968	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34342089	chr2:77893645-77893646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532175935	chr2:77893660-77893661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118040330	chr2:77893668-77893669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557609524	chr2:77893669-77893670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534710845	chr2:77893708-77893709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139666188	chr2:77893715-77893716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568177182	chr2:77893732-77893733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537324765	chr2:77893751-77893752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557004557	chr2:77893787-77893788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10190071	chr2:77893810-77893811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545834298	chr2:77893816-77893817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553049654	chr2:77893843-77893844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144972422	chr2:77893871-77893872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183657927	chr2:77893887-77893888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78408520	chr2:77893900-77893901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115153790	chr2:77893907-77893908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544872556	chr2:77893936-77893937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147954240	chr2:77894001-77894002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189267144	chr2:77894011-77894012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181223745	chr2:77894012-77894013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141786640	chr2:77894013-77894014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565689480	chr2:77894023-77894024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544112552	chr2:77894048-77894049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78994415	chr2:77894073-77894074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548000652	chr2:77894092-77894093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117939536	chr2:77894096-77894097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186501840	chr2:77894116-77894117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111654311	chr2:77894137-77894138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374269582	chr2:77894157-77894158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539354310	chr2:77894174-77894175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550457559	chr2:77894731-77894732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs538345904	chr2:77895613-77895614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112403991	chr2:77895632-77895633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs13397740	chr2:77895634-77895635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534292016	chr2:77897694-77897695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557295343	chr2:77898804-77898805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs530137724	chr2:77899342-77899343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs559203249	chr2:77899378-77899379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs556290515	chr2:77900190-77900191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs151144100	chr2:77900287-77900288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs545304322	chr2:77900288-77900289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs559486822	chr2:77900293-77900294	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs377089412	chr2:77900306-77900307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs112621530	chr2:77900312-77900313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs370481765	chr2:77900363-77900364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs75924023	chr2:77900410-77900411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs370850940	chr2:77900419-77900420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs113376091	chr2:77900428-77900429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs202200265	chr2:77900534-77900535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs565215860	chr2:77900573-77900574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77892000-77893800	Enhancers	Fetal Lung	lung
2	chr2:77892200-77894200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:77892800-77894000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:77893200-77894200	Enhancers	HepG2	liver
5	chr2:77893600-77894200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:77911400-77912600	Enhancers	Fetal Heart	heart

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