Variant report

Variant	nsv8097
Chromosome Location	chr7:57824322-57838498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:549)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:57829912-57829934	K562	blood:	n/a	n/a
2	CTCF	chr7:57831481-57831599	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:57824484-57824540	GM13976	blood:	n/a	n/a
4	CTCF	chr7:57831490-57831584	NHEK	skin:	n/a	n/a
5	CTCF	chr7:57831499-57831574	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:57831499-57831587	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:57831496-57831563	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:57828535-57828612	GM10266	blood:	n/a	n/a
9	CTCF	chr7:57829540-57829598	GM13976	blood:	n/a	n/a
10	CTCF	chr7:57830913-57830952	GM13976	blood:	n/a	n/a
11	CTCF	chr7:57831051-57831076	GM20000	blood:	n/a	n/a
12	E2F6	chr7:57829850-57829970	K562	blood:	n/a	n/a
13	EBF1	chr7:57827176-57827405	GM12878	blood:	n/a	n/a
14	HCFC1	chr7:57829905-57829931	K562	blood:	n/a	n/a
15	JUND	chr7:57829905-57829934	K562	blood:	n/a	n/a
16	MAZ	chr7:57829899-57829955	HepG2	liver:	n/a	n/a
17	MAZ	chr7:57829902-57829934	K562	blood:	n/a	n/a
18	MYC	chr7:57831549-57831563	MCF-7	breast:	n/a	n/a
19	NRF1	chr7:57829600-57830172	SK-N-SH	brain:	n/a	chr7:57829898-57829909
20	NRF1	chr7:57835904-57836273	SK-N-SH	brain:	n/a	n/a
21	NRF1	chr7:57831840-57832578	SK-N-SH	brain:	n/a	n/a
22	NRF1	chr7:57829731-57830105	K562	blood:	n/a	chr7:57829898-57829909
23	POLR2A	chr7:57829733-57829933	K562	blood:	n/a	n/a
24	POLR2A	chr7:57829922-57829927	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:57829894-57829930	K562	blood:	n/a	n/a
26	POLR2A	chr7:57827317-57827496	MCF10A-Er-Src	breast:	n/a	n/a
27	RCOR1	chr7:57829863-57829937	K562	blood:	n/a	n/a
28	YY1	chr7:57835897-57836177	SK-N-SH_RA	brain:	n/a	n/a
29	YY1	chr7:57835929-57836127	SK-N-SH_RA	brain:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57836911-57836961	HEK293	kidney:	embryo
2	chr7:57830625-57830675	GM19239	blood:	n/a
3	chr7:57830625-57830675	MCF10A-Er-Src	breast:	n/a
4	chr7:57830004-57830054	AoSMC	blood vessel:	n/a
5	chr7:57836911-57836961	LNCaP	prostate:	n/a
6	chr7:57830004-57830054	HRCEpiC	kidney:	n/a
7	chr7:57829763-57829813	NT2-D1	testis:	n/a
8	chr7:57836342-57836392	ECC-1	luminal epithelium:	n/a
9	chr7:57835813-57835863	U87	brain:	n/a
10	chr7:57830004-57830054	HRPEpiC	eye:	n/a
11	chr7:57829763-57829813	NH-A	brain:	n/a
12	chr7:57829763-57829813	LNCaP	prostate:	n/a
13	chr7:57831919-57831969	MCF-7	breast:	n/a
14	chr7:57831919-57831969	PrEC	prostate:	n/a
15	chr7:57832834-57832884	HRE	kidney:	n/a
16	chr7:57835813-57835863	GM12878	blood:	n/a
17	chr7:57836911-57836961	GM06990	blood:	n/a
18	chr7:57836212-57836262	HCM	heart:	n/a
19	chr7:57836342-57836392	GM12891	blood:	n/a
20	chr7:57836212-57836262	HRCEpiC	kidney:	n/a
21	chr7:57829763-57829813	HNPCEpiC	eye:	n/a
22	chr7:57836212-57836262	ovcar-3	ovarian:	n/a
23	chr7:57835813-57835863	PANC-1	pancreas:	n/a
24	chr7:57830004-57830054	HL-60	blood:	n/a
25	chr7:57831919-57831969	IMR90	lung:	fetal
26	chr7:57836911-57836961	GM12878	blood:	n/a
27	chr7:57830625-57830675	BE2_C	brain:	n/a
28	chr7:57829763-57829813	MCF-7	breast:	n/a
29	chr7:57835813-57835863	SK-N-MC	brain:	n/a
30	chr7:57831919-57831969	HCF	heart:	n/a
31	chr7:57832834-57832884	H1-hESC	embryonic stem cell:	embryo
32	chr7:57829763-57829813	GM12891	blood:	n/a
33	chr7:57830625-57830675	LNCaP	prostate:	n/a
34	chr7:57836911-57836961	AG10803	skin:	n/a
35	chr7:57836212-57836262	BE2_C	brain:	n/a
36	chr7:57836342-57836392	HRCEpiC	kidney:	n/a
37	chr7:57830625-57830675	GM06990	blood:	n/a
38	chr7:57829763-57829813	NHDF-neo	bronchial:	n/a
39	chr7:57831919-57831969	K562	blood:	n/a
40	chr7:57832834-57832884	HRPEpiC	eye:	n/a
41	chr7:57830004-57830054	SAEC	small airway:	n/a
42	chr7:57835813-57835863	LNCaP	prostate:	n/a
43	chr7:57832834-57832884	ProgFib	skin:	n/a
44	chr7:57835813-57835863	HCM	heart:	n/a
45	chr7:57835813-57835863	HEEpiC	esophagus:	n/a
46	chr7:57830004-57830054	Caco-2	colon:	n/a
47	chr7:57830625-57830675	T-47D	breast:	n/a
48	chr7:57836212-57836262	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:57830004-57830054	HRE	kidney:	n/a
50	chr7:57831919-57831969	AG04449	skin:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-11	chr7:57830325-57830652	NONHSAT120868
2	lnc-ZNF716-21	chr7:57830672-57830879	NONHSAT120869

No data

Variant related genes	Relation type
ENSG00000227015	TF binding region
ENSG00000224484	TF binding region
ENSG00000230271	TF binding region
ENSG00000232161	TF binding region
ENSG00000250923	TF binding region
ENSG00000227015	CpG island
ENSG00000224484	CpG island
ENSG00000230271	CpG island
ENSG00000232161	CpG island
ENSG00000250923	CpG island

Extended variants
information (count: 383 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540342078	chr7:57827210-57827211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565014705	chr7:57827211-57827212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs1842989	chr7:57827222-57827223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550623919	chr7:57827232-57827233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs183594985	chr7:57827300-57827301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547989209	chr7:57827328-57827329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566877955	chr7:57827345-57827346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189316481	chr7:57827357-57827358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570631384	chr7:57827403-57827404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182297841	chr7:57827422-57827423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143644102	chr7:57827443-57827444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs148079102	chr7:57827461-57827462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533698586	chr7:57827483-57827484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs71546988	chr7:57828548-57828549	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374025911	chr7:57828570-57828571	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs563944791	chr7:57828572-57828573	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs531365866	chr7:57828630-57828631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs549702628	chr7:57828631-57828632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541442343	chr7:57828639-57828640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569381953	chr7:57828667-57828668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181394807	chr7:57828695-57828696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145033805	chr7:57828713-57828714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566838412	chr7:57828721-57828722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534520170	chr7:57828757-57828758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186014385	chr7:57828758-57828759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147639810	chr7:57828769-57828770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs538472195	chr7:57828770-57828771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377596537	chr7:57828779-57828780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574501850	chr7:57828840-57828841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541542276	chr7:57828873-57828874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559730018	chr7:57828874-57828875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs35091692	chr7:57828888-57828889	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73697611	chr7:57828948-57828949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs142309079	chr7:57828950-57828951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531505598	chr7:57828988-57828989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs6962105	chr7:57829001-57829002	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144391692	chr7:57829030-57829031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs550615057	chr7:57829031-57829032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371503813	chr7:57829093-57829094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530228258	chr7:57829133-57829134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548365429	chr7:57829140-57829141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371592494	chr7:57829202-57829203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34382824	chr7:57829252-57829253	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368376661	chr7:57829274-57829275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs527645270	chr7:57829291-57829292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190879249	chr7:57829306-57829307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571208033	chr7:57829340-57829341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538133376	chr7:57829341-57829342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531116807	chr7:57829359-57829360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs113843015	chr7:57829360-57829361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57828600-57834800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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