Variant report

Variant	nsv970927
Chromosome Location	chr7:104307903-104312412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:245)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:104309300-104309557	GM12878	blood:	n/a	chr7:104309452-104309463
2	CTCF	chr7:104309477-104309556	GM20000	blood:	n/a	n/a
3	CTCF	chr7:104308369-104308457	LNCaP	prostate:	n/a	n/a
4	CTCF	chr7:104309466-104309471	GM20000	blood:	n/a	n/a
5	CTCF	chr7:104308537-104308580	LNCaP	prostate:	n/a	n/a
6	CTCF	chr7:104310549-104310601	GM13976	blood:	n/a	n/a
7	CTCF	chr7:104309024-104309069	LNCaP	prostate:	n/a	n/a
8	CTCF	chr7:104310025-104310048	GM13977	blood:	n/a	n/a
9	CTCF	chr7:104308466-104308483	LNCaP	prostate:	n/a	n/a
10	EP300	chr7:104309780-104310043	GM12878	blood:	n/a	n/a
11	FOS	chr7:104310671-104310732	MCF10A-Er-Src	breast:	n/a	chr7:104310712-104310721 chr7:104310712-104310720 chr7:104310713-104310720 chr7:104310711-104310720
12	FOSL2	chr7:104311407-104311682	HepG2	liver:	n/a	n/a
13	FOSL2	chr7:104310588-104310838	HepG2	liver:	n/a	chr7:104310712-104310721 chr7:104310712-104310720 chr7:104310713-104310720 chr7:104310711-104310720
14	FOSL2	chr7:104309255-104309618	HepG2	liver:	n/a	n/a
15	GATA3	chr7:104307984-104308060	SH-SY5Y	brain:	n/a	n/a
16	HEY1	chr7:104309505-104309740	K562	blood:	n/a	n/a
17	JUND	chr7:104311414-104311608	HepG2	liver:	n/a	n/a
18	JUND	chr7:104309491-104309499	K562	blood:	n/a	n/a
19	MAFK	chr7:104309325-104309382	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:104310879-104311131	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr7:104310889-104310914	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:104310176-104310342	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:104311388-104311636	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:104311426-104311661	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:104311274-104311632	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:104310663-104310839	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:104309411-104309665	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr7:104309417-104309728	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:104308173-104308365	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:104310876-104310975	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:104309420-104309878	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:104310878-104310948	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr7:104308176-104308503	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:104310893-104310909	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:104309446-104309725	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:104311671-104311920	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:104308082-104308766	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:104311361-104311634	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:104309532-104309700	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:104310615-104311650	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:104310251-104310393	ProgFib	skin:	n/a	n/a
42	POLR2A	chr7:104310084-104310466	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:104308836-104309137	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:104309297-104310364	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr7:104310947-104310982	HepG2	liver:	n/a	n/a
46	POLR2A	chr7:104311299-104311653	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr7:104310939-104310980	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:104310662-104311794	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:104311431-104311666	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:104310173-104310348	Hela-S3	cervix:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:104309039-104309089	RPTEC	kidney:	n/a
2	chr7:104309039-104309089	RPTEC	kidney:	n/a
3	chr7:104308799-104308849	Hepatocyte	liver:	n/a
4	chr7:104309039-104309089	HAEpiC	amniotic membrane:	n/a
5	chr7:104308799-104308849	MCF10A-Er-Src	breast:	n/a
6	chr7:104309203-104309253	HRPEpiC	eye:	n/a
7	chr7:104308799-104308849	HRE	kidney:	n/a
8	chr7:104309203-104309253	PFSK-1	brain:	n/a
9	chr7:104309203-104309253	BJ	skin:	n/a
10	chr7:104309203-104309253	NB4	blood:	n/a
11	chr7:104308403-104308453	HCM	heart:	n/a
12	chr7:104308799-104308849	Hela-S3	cervix:	n/a
13	chr7:104309039-104309089	GM06990	blood:	n/a
14	chr7:104308403-104308453	HCPEpiC	choroid plexus:	n/a
15	chr7:104308403-104308453	PANC-1	pancreas:	n/a
16	chr7:104308403-104308453	Caco-2	colon:	n/a
17	chr7:104309039-104309089	NT2-D1	testis:	n/a
18	chr7:104308403-104308453	HRCEpiC	kidney:	n/a
19	chr7:104309039-104309089	HRCEpiC	kidney:	n/a
20	chr7:104308799-104308849	NHBE	bronchial:	n/a
21	chr7:104308799-104308849	H1-hESC	embryonic stem cell:	embryo
22	chr7:104309203-104309253	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:104308799-104308849	HRCEpiC	kidney:	n/a
24	chr7:104309203-104309253	GM06990	blood:	n/a
25	chr7:104308403-104308453	HRE	kidney:	n/a
26	chr7:104309039-104309089	NHBE	bronchial:	n/a
27	chr7:104309203-104309253	HRE	kidney:	n/a
28	chr7:104309039-104309089	BJ	skin:	n/a
29	chr7:104309039-104309089	HCF	heart:	n/a
30	chr7:104308799-104308849	MCF-7	breast:	n/a
31	chr7:104308403-104308453	HepG2	liver:	n/a
32	chr7:104308799-104308849	U87	brain:	n/a
33	chr7:104308799-104308849	GM06990	blood:	n/a
34	chr7:104309039-104309089	HRPEpiC	eye:	n/a
35	chr7:104308403-104308453	NHDF-neo	bronchial:	n/a
36	chr7:104309039-104309089	HEEpiC	esophagus:	n/a
37	chr7:104308799-104308849	AG10803	skin:	n/a
38	chr7:104308799-104308849	Caco-2	colon:	n/a
39	chr7:104309039-104309089	GM19239	blood:	n/a
40	chr7:104309039-104309089	GM12891	blood:	n/a
41	chr7:104308799-104308849	SK-N-MC	brain:	n/a
42	chr7:104309203-104309253	NH-A	brain:	n/a
43	chr7:104309203-104309253	Hela-S3	cervix:	n/a
44	chr7:104308799-104308849	SKMC	muscle:	n/a
45	chr7:104308799-104308849	HAEpiC	amniotic membrane:	n/a
46	chr7:104308403-104308453	HUVEC	blood vessel:	n/a
47	chr7:104309039-104309089	PANC-1	pancreas:	n/a
48	chr7:104309203-104309253	AoSMC	blood vessel:	n/a
49	chr7:104309203-104309253	PANC-1	pancreas:	n/a
50	chr7:104308799-104308849	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104306069..104307978-chr7:104312214..104314439,4	K562	blood:
2	chr7:104306069..104307978-chr7:104312214..104314439,4	K562	blood:

No data

Variant related genes	Relation type
EIF4BP6	TF binding region
EIF4BP6	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7801387	chr7:104307987-104307988	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563007583	chr7:104308052-104308053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531763608	chr7:104308060-104308061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565517954	chr7:104308106-104308107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147916795	chr7:104308158-104308159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19492091	CNVD
Pancreatic cancer	17952125	CNVD

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

No data

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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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