Variant report

Variant	nsv981480
Chromosome Location	chr7:56634980-56638588
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	CEBPB	chr7:56635681-56635783	HepG2	liver:	n/a	chr7:56635719-56635730
2	GATA3	chr7:56636838-56637057	T-47D	breast:	n/a	n/a
3	GATA3	chr7:56636781-56637166	T-47D	breast:	n/a	n/a
4	HEY1	chr7:56636984-56637151	K562	blood:	n/a	n/a
5	HEY1	chr7:56636861-56637173	HepG2	liver:	n/a	n/a
6	MAFK	chr7:56637403-56637656	IMR90	lung:	n/a	n/a
7	MAFK	chr7:56637385-56637651	HepG2	liver:	n/a	n/a
8	MYC	chr7:56636955-56637118	MCF-7	breast:	n/a	chr7:56637106-56637115
9	POLR2A	chr7:56636679-56637095	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:56636918-56637159	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:56637081-56637121	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:56637002-56637167	GM12891	blood:	n/a	n/a
13	POLR2A	chr7:56637015-56637142	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:56637023-56637095	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:56637018-56637145	A549	lung:	n/a	n/a
16	POLR2A	chr7:56637028-56637127	A549	lung:	n/a	n/a
17	POLR2A	chr7:56636926-56637114	A549	lung:	n/a	n/a
18	POLR2A	chr7:56636860-56637121	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:56637021-56637144	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:56636854-56637122	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:56636996-56637117	K562	blood:	n/a	n/a
22	POLR2A	chr7:56637054-56637101	A549	lung:	n/a	n/a
23	POLR2A	chr7:56636860-56637201	GM12892	blood:	n/a	n/a
24	POLR2A	chr7:56636903-56637147	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:56637019-56637095	GM12891	blood:	n/a	n/a
26	POLR2A	chr7:56637035-56637135	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:56637003-56637202	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr7:56637017-56637152	PFSK-1	brain:	n/a	n/a
29	TAF1	chr7:56636910-56637219	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr7:56637003-56637155	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr7:56637006-56637156	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000213650	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140679628	chr7:56636709-56636710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535688091	chr7:56636765-56636766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547353533	chr7:56636795-56636796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs573413573	chr7:56636807-56636808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556941457	chr7:56636841-56636842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533908767	chr7:56636876-56636877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12535421	chr7:56636880-56636881	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373786196	chr7:56636988-56636989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182141027	chr7:56636989-56636990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543372730	chr7:56637035-56637036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148854434	chr7:56637057-56637058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185647160	chr7:56637083-56637084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574910945	chr7:56637084-56637085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs189309267	chr7:56637089-56637090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6953629	chr7:56637108-56637109	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572719261	chr7:56637110-56637111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs573795499	chr7:56637120-56637121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62461619	chr7:56637177-56637178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545347182	chr7:56637190-56637191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs563746548	chr7:56637194-56637195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531245328	chr7:56637197-56637198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370325709	chr7:56637419-56637420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367782412	chr7:56637434-56637435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112802900	chr7:56637438-56637439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541197771	chr7:56637450-56637451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs529063174	chr7:56637496-56637497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs12535550	chr7:56637502-56637503	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs62461620	chr7:56637503-56637504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539726638	chr7:56637526-56637527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs185199692	chr7:56637591-56637592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	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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