Variant report

Variant	nsv981484
Chromosome Location	chr7:57223149-57246248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:57226466-57226562	K562	blood:	n/a	n/a
2	ATF1	chr7:57226381-57226494	K562	blood:	n/a	n/a
3	CBX3	chr7:57233156-57233373	K562	blood:	n/a	n/a
4	CEBPB	chr7:57241524-57241724	HepG2	liver:	n/a	n/a
5	CTCF	chr7:57242263-57242355	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr7:57224676-57224770	MCF-7	breast:	n/a	n/a
7	FOS	chr7:57242842-57242909	MCF10A-Er-Src	breast:	n/a	chr7:57242850-57242857 chr7:57242850-57242859
8	IRF3	chr7:57238121-57238146	GM12878	blood:	n/a	n/a
9	JUN	chr7:57227986-57228132	K562	blood:	n/a	n/a
10	JUND	chr7:57242702-57242918	HepG2	liver:	n/a	chr7:57242850-57242857 chr7:57242848-57242859 chr7:57242850-57242859
11	JUND	chr7:57244977-57245279	HepG2	liver:	n/a	n/a
12	KAP1	chr7:57232786-57233594	K562	blood:	n/a	chr7:57232795-57232803
13	KAP1	chr7:57232792-57233536	HEK293	kidney:	n/a	chr7:57232795-57232803
14	POLR2A	chr7:57230768-57230865	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:57230077-57230209	A549	lung:	n/a	n/a
16	POLR2A	chr7:57223852-57224011	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:57244892-57244996	GM12878	blood:	n/a	n/a
18	SETDB1	chr7:57232827-57233510	U2OS	brain:	n/a	n/a
19	SETDB1	chr7:57232751-57234006	K562	blood:	n/a	n/a
20	TCF12	chr7:57232758-57233466	A549	lung:	n/a	n/a
21	ZNF143	chr7:57232969-57232989	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr7:57232963-57233478	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF143	chr7:57233011-57233354	K562	blood:	n/a	n/a
24	ZNF274	chr7:57231694-57234105	K562	blood:	n/a	n/a
25	ZNF274	chr7:57232561-57233633	NT2-D1	testis:	n/a	n/a
26	ZNF274	chr7:57232280-57233959	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF274	chr7:57232767-57233533	GM12878	blood:	n/a	n/a
28	ZNF274	chr7:57232707-57233612	HepG2	liver:	n/a	n/a
29	ZNF274	chr7:57232836-57233581	GM08714	blood:	n/a	n/a
30	ZNF274	chr7:57232765-57233525	K562	blood:	n/a	n/a
31	ZNF274	chr7:57232165-57232566	GM08714	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57245575-57245625	PFSK-1	brain:	n/a
2	chr7:57245575-57245625	PFSK-1	brain:	n/a
3	chr7:57246097-57246147	HIPEpiC	eye:	n/a
4	chr7:57246097-57246147	PANC-1	pancreas:	n/a
5	chr7:57245575-57245625	SK-N-SH	brain:	n/a
6	chr7:57246097-57246147	SK-N-SH_RA	brain:	n/a
7	chr7:57246097-57246147	MCF-7	breast:	n/a
8	chr7:57245575-57245625	HRPEpiC	eye:	n/a
9	chr7:57245575-57245625	GM12892	blood:	n/a
10	chr7:57246097-57246147	GM12892	blood:	n/a
11	chr7:57246097-57246147	ECC-1	luminal epithelium:	n/a
12	chr7:57246097-57246147	HEK293	kidney:	embryo
13	chr7:57245575-57245625	GM19239	blood:	n/a
14	chr7:57246097-57246147	HL-60	blood:	n/a
15	chr7:57246097-57246147	U87	brain:	n/a
16	chr7:57245575-57245625	HAEpiC	amniotic membrane:	n/a
17	chr7:57246097-57246147	Hepatocyte	liver:	n/a
18	chr7:57245575-57245625	MCF-7	breast:	n/a
19	chr7:57245575-57245625	SAEC	small airway:	n/a
20	chr7:57246097-57246147	HRPEpiC	eye:	n/a
21	chr7:57246097-57246147	HRE	kidney:	n/a
22	chr7:57245575-57245625	ovcar-3	ovarian:	n/a
23	chr7:57246097-57246147	A549	lung:	n/a
24	chr7:57245575-57245625	Caco-2	colon:	n/a
25	chr7:57246097-57246147	Jurkat	blood:	n/a
26	chr7:57245575-57245625	GM12878	blood:	n/a
27	chr7:57245575-57245625	T-47D	breast:	n/a
28	chr7:57246097-57246147	AoSMC	blood vessel:	n/a
29	chr7:57246097-57246147	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:57245575-57245625	HCM	heart:	n/a
31	chr7:57246097-57246147	HMEC	breast:	n/a
32	chr7:57245575-57245625	SKMC	muscle:	n/a
33	chr7:57245575-57245625	NT2-D1	testis:	n/a
34	chr7:57246097-57246147	SK-N-SH	brain:	n/a
35	chr7:57245575-57245625	NHBE	bronchial:	n/a
36	chr7:57245575-57245625	HEEpiC	esophagus:	n/a
37	chr7:57245575-57245625	HCF	heart:	n/a
38	chr7:57245575-57245625	PrEC	prostate:	n/a
39	chr7:57246097-57246147	HRCEpiC	kidney:	n/a
40	chr7:57246097-57246147	SAEC	small airway:	n/a
41	chr7:57245575-57245625	NB4	blood:	n/a
42	chr7:57245575-57245625	U87	brain:	n/a
43	chr7:57246097-57246147	AG09319	gingival:	n/a
44	chr7:57246097-57246147	NHDF-neo	bronchial:	n/a
45	chr7:57245575-57245625	RPTEC	kidney:	n/a
46	chr7:57245575-57245625	NHDF-neo	bronchial:	n/a
47	chr7:57246097-57246147	T-47D	breast:	n/a
48	chr7:57246097-57246147	NT2-D1	testis:	n/a
49	chr7:57245575-57245625	HUVEC	blood vessel:	n/a
50	chr7:57245575-57245625	HepG2	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000224880	TF binding region
MTND5P6	TF binding region
ENSG00000231537	TF binding region
MTND4P4	TF binding region
ENSG00000224880	CpG island
MTND5P6	CpG island
ENSG00000231537	CpG island
MTND4P4	CpG island

Extended variants
information (count: 714 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141058649	chr7:57228800-57228801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149897375	chr7:57228843-57228844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554338848	chr7:57228845-57228846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs34585021	chr7:57228857-57228858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571517990	chr7:57228864-57228865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs113062222	chr7:57228883-57228884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs78086584	chr7:57228891-57228892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560227840	chr7:57228894-57228895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188259571	chr7:57228950-57228951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557254466	chr7:57228960-57228961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs9886282	chr7:57228980-57228981	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144953649	chr7:57229024-57229025	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140755488	chr7:57229038-57229039	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572749176	chr7:57229048-57229049	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144605092	chr7:57229058-57229059	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564937848	chr7:57229083-57229084	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577131364	chr7:57229106-57229107	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs564958430	chr7:57229125-57229126	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs544444346	chr7:57229130-57229131	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562656964	chr7:57229131-57229132	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530042578	chr7:57229163-57229164	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548183018	chr7:57229169-57229170	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561338702	chr7:57229180-57229181	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528437106	chr7:57229181-57229182	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547086969	chr7:57229183-57229184	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs193268844	chr7:57229212-57229213	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138550521	chr7:57229213-57229214	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140390562	chr7:57229221-57229222	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185493773	chr7:57229228-57229229	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569102089	chr7:57229231-57229232	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75756499	chr7:57229246-57229247	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554922822	chr7:57229265-57229266	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545672144	chr7:57229341-57229342	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189559644	chr7:57229362-57229363	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201062011	chr7:57229396-57229397	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369086044	chr7:57229402-57229403	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533523505	chr7:57229457-57229458	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558562004	chr7:57229505-57229506	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75413821	chr7:57229534-57229535	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143618845	chr7:57229546-57229547	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75384431	chr7:57229550-57229551	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs148027417	chr7:57229551-57229552	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs542117424	chr7:57229556-57229557	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs560154965	chr7:57229562-57229563	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs141744898	chr7:57229600-57229601	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540260108	chr7:57229609-57229610	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564924265	chr7:57229626-57229627	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs180836262	chr7:57229627-57229628	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550659357	chr7:57229636-57229637	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569112626	chr7:57229688-57229689	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57228800-57239000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:57229000-57229800	Active TSS	Fetal Heart	heart
3	chr7:57229000-57230000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr7:57229400-57229800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr7:57231200-57236000	ZNF genes & repeats	Liver	Liver
6	chr7:57231400-57232200	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr7:57232000-57233800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:57232000-57234200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:57234200-57238200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr7:57237800-57239800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:57239200-57239600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr7:57241800-57243800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr7:57242600-57243800	ZNF genes & repeats	Brain Substantia Nigra	brain
14	chr7:57242800-57243600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr7:57244200-57250800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:57244600-57246800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr7:57244600-57250800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr7:57244800-57245200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr7:57245000-57245200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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