Variant report

Variant	nsv961422
Chromosome Location	chr2:77896467-77918164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:77916168-77916219	Medullo	brain:	n/a	n/a
2	CTCF	chr2:77903046-77903106	GM20000	blood:	n/a	n/a
3	CTCF	chr2:77916558-77916601	Medullo	brain:	n/a	n/a
4	CTCF	chr2:77912188-77912297	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:77908100-77908251	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:77906948-77906955	A549	lung:	n/a	n/a
7	CTCF	chr2:77911764-77911784	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:77912187-77912293	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr2:77906916-77906944	A549	lung:	n/a	n/a
10	CTCF	chr2:77911824-77911827	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:77911786-77911819	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:77910433-77910451	A549	lung:	n/a	n/a
13	CTCF	chr2:77912217-77912259	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:77910310-77910325	Medullo	brain:	n/a	n/a
15	CTCF	chr2:77916774-77916889	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr2:77905343-77905404	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:77912182-77912185	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr2:77908119-77908252	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:77908184-77908198	MCF-7	breast:	n/a	n/a
20	GATA2	chr2:77912081-77912347	SH-SY5Y	brain:	n/a	n/a
21	MYC	chr2:77910387-77910490	MCF-7	breast:	n/a	n/a
22	MYC	chr2:77911722-77911847	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:77910289-77910504	A549	lung:	n/a	n/a
24	POLR2A	chr2:77907758-77907825	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:77910351-77910375	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:77902152-77902355	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:77911707-77911962	A549	lung:	n/a	n/a
28	POLR2A	chr2:77910265-77910328	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:77911707-77911834	Gliobla	brain:	n/a	n/a
30	POLR2A	chr2:77898778-77898888	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:77897513-77897694	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:77908120-77908143	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:77910394-77910538	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:77916820-77916931	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:77910387-77910436	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:77910450-77910487	MCF-7	breast:	n/a	n/a
37	RXRA	chr2:77906965-77907232	HepG2	liver:	n/a	n/a
38	SMC3	chr2:77912224-77912254	Hela-S3	cervix:	n/a	n/a
39	STAT3	chr2:77905948-77906082	MCF10A-Er-Src	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	chr2:77899341-77899395	XLOC_001541
2	lnc-REG3G-5	chr2:77900177-77900918	XLOC_001541

No data

Variant related genes	Relation type
ENSG00000230968	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534292016	chr2:77897694-77897695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557295343	chr2:77898804-77898805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530137724	chr2:77899342-77899343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs559203249	chr2:77899378-77899379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs556290515	chr2:77900190-77900191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs151144100	chr2:77900287-77900288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545304322	chr2:77900288-77900289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs559486822	chr2:77900293-77900294	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs377089412	chr2:77900306-77900307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112621530	chr2:77900312-77900313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370481765	chr2:77900363-77900364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs75924023	chr2:77900410-77900411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs370850940	chr2:77900419-77900420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs113376091	chr2:77900428-77900429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs202200265	chr2:77900534-77900535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565215860	chr2:77900573-77900574	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572465868	chr2:77900610-77900611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185032039	chr2:77900672-77900673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs62163278	chr2:77900678-77900679	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530173490	chr2:77900692-77900693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528274071	chr2:77900696-77900697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs563517933	chr2:77900723-77900724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs532601781	chr2:77900731-77900732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs189404635	chr2:77900907-77900908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs566078203	chr2:77900913-77900914	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs544837709	chr2:77911415-77911416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528399429	chr2:77911459-77911460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562643522	chr2:77911462-77911463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376990956	chr2:77911469-77911470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548048006	chr2:77911487-77911488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62163290	chr2:77911529-77911530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574635936	chr2:77911535-77911536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568124528	chr2:77911629-77911630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537003170	chr2:77911675-77911676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556933550	chr2:77911692-77911693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570894991	chr2:77911763-77911764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539905978	chr2:77911848-77911849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112696669	chr2:77911877-77911878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75674113	chr2:77911916-77911917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138786870	chr2:77911959-77911960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371972029	chr2:77911960-77911961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11681108	chr2:77911976-77911977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553316091	chr2:77912041-77912042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573356559	chr2:77912066-77912067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542171890	chr2:77912085-77912086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11676399	chr2:77912109-77912110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576007865	chr2:77912148-77912149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543486774	chr2:77912208-77912209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11126628	chr2:77912236-77912237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11676374	chr2:77912260-77912261	Enhancers	n/a	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77911400-77912600	Enhancers	Fetal Heart	heart
2	chr2:77918000-77919000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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