Variant report

Variant	esv3495414
Chromosome Location	chr7:57242624-57258940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:1038)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:57253983-57254242	GM12878	blood:	n/a	n/a
2	BATF	chr7:57254005-57254200	GM12878	blood:	n/a	n/a
3	BCL11A	chr7:57254013-57254149	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:57253993-57254172	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:57255135-57255352	HepG2	liver:	n/a	n/a
6	BHLHE40	chr7:57253991-57254170	HepG2	liver:	n/a	n/a
7	CTCF	chr7:57254061-57254115	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:57254039-57254107	HepG2	liver:	n/a	n/a
9	CTCF	chr7:57254080-57254115	GM19240	blood:	n/a	n/a
10	CTCF	chr7:57254111-57254116	GM19239	blood:	n/a	n/a
11	FOS	chr7:57242842-57242909	MCF10A-Er-Src	breast:	n/a	chr7:57242850-57242857 chr7:57242850-57242859
12	FOSL2	chr7:57253997-57254167	HepG2	liver:	n/a	n/a
13	FOSL2	chr7:57253967-57254193	HepG2	liver:	n/a	n/a
14	GABPA	chr7:57253943-57254159	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr7:57254032-57254131	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr7:57253989-57254171	HepG2	liver:	n/a	n/a
17	HEY1	chr7:57254022-57254135	HepG2	liver:	n/a	n/a
18	JUND	chr7:57242702-57242918	HepG2	liver:	n/a	chr7:57242850-57242857 chr7:57242848-57242859 chr7:57242850-57242859
19	JUND	chr7:57244977-57245279	HepG2	liver:	n/a	n/a
20	MAFK	chr7:57255428-57255629	HepG2	liver:	n/a	n/a
21	MYC	chr7:57254080-57254116	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr7:57254079-57254117	HepG2	liver:	n/a	n/a
23	PBX3	chr7:57254029-57254131	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:57253986-57254210	Gliobla	brain:	n/a	n/a
25	POLR2A	chr7:57253999-57254213	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:57254079-57254115	K562	blood:	n/a	n/a
27	POLR2A	chr7:57244892-57244996	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:57253997-57254145	H1-hESC	embryonic stem cell:	n/a	n/a
29	RXRA	chr7:57253969-57254191	GM12878	blood:	n/a	n/a
30	RXRA	chr7:57253978-57254157	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr7:57254009-57254151	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr7:57255307-57255389	HepG2	liver:	n/a	n/a
33	SIX5	chr7:57253966-57254179	GM12878	blood:	n/a	n/a
34	SIX5	chr7:57255201-57255487	GM12878	blood:	n/a	n/a
35	SIX5	chr7:57253994-57254170	K562	blood:	n/a	n/a
36	SP1	chr7:57253983-57254213	GM12878	blood:	n/a	n/a
37	SP1	chr7:57254045-57254115	HepG2	liver:	n/a	n/a
38	SPI1	chr7:57254001-57254155	GM12878	blood:	n/a	n/a
39	SPI1	chr7:57253987-57254143	K562	blood:	n/a	n/a
40	TAF1	chr7:57253992-57254143	Hela-S3	cervix:	n/a	n/a
41	TAF1	chr7:57254005-57254155	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr7:57253980-57254157	HepG2	liver:	n/a	n/a
43	USF1	chr7:57254030-57254131	HepG2	liver:	n/a	n/a
44	ZBTB33	chr7:57253959-57254200	HepG2	liver:	n/a	n/a
45	ZBTB33	chr7:57253974-57254187	GM12878	blood:	n/a	n/a
46	ZBTB33	chr7:57253925-57254175	GM12878	blood:	n/a	n/a
47	ZBTB33	chr7:57254032-57254129	HepG2	liver:	n/a	n/a
48	ZNF263	chr7:57248949-57249201	HEK293-T-REx	kidney:	n/a	chr7:57249032-57249053 chr7:57248989-57249010
49	ZNF263	chr7:57249447-57250416	HEK293-T-REx	kidney:	n/a	chr7:57249914-57249935 chr7:57249859-57249880

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57247619-57247669	IMR90	lung:	fetal
2	chr7:57247619-57247669	IMR90	lung:	fetal
3	chr7:57247957-57248007	Hepatocyte	liver:	n/a
4	chr7:57247873-57247923	Hepatocyte	liver:	n/a
5	chr7:57248455-57248505	AG09319	gingival:	n/a
6	chr7:57248018-57248068	NHBE	bronchial:	n/a
7	chr7:57248018-57248068	NT2-D1	testis:	n/a
8	chr7:57246097-57246147	PrEC	prostate:	n/a
9	chr7:57248018-57248068	HepG2	liver:	n/a
10	chr7:57249065-57249115	HEK293	kidney:	embryo
11	chr7:57247871-57247921	U87	brain:	n/a
12	chr7:57247873-57247923	HCPEpiC	choroid plexus:	n/a
13	chr7:57252146-57252196	BJ	skin:	n/a
14	chr7:57247957-57248007	SK-N-SH_RA	brain:	n/a
15	chr7:57248804-57248854	GM12878	blood:	n/a
16	chr7:57249065-57249115	Hepatocyte	liver:	n/a
17	chr7:57247707-57247757	A549	lung:	n/a
18	chr7:57247891-57247941	RPTEC	kidney:	n/a
19	chr7:57247912-57247962	LNCaP	prostate:	n/a
20	chr7:57247873-57247923	AG04450	lung:	fetal
21	chr7:57249065-57249115	GM12891	blood:	n/a
22	chr7:57247871-57247921	NB4	blood:	n/a
23	chr7:57248804-57248854	NH-A	brain:	n/a
24	chr7:57247176-57247226	HCM	heart:	n/a
25	chr7:57247176-57247226	SK-N-MC	brain:	n/a
26	chr7:57247871-57247921	T-47D	breast:	n/a
27	chr7:57248455-57248505	HNPCEpiC	eye:	n/a
28	chr7:57248455-57248505	GM12891	blood:	n/a
29	chr7:57247871-57247921	NT2-D1	testis:	n/a
30	chr7:57247912-57247962	Jurkat	blood:	n/a
31	chr7:57249065-57249115	MCF-7	breast:	n/a
32	chr7:57248018-57248068	NH-A	brain:	n/a
33	chr7:57252146-57252196	NT2-D1	testis:	n/a
34	chr7:57247891-57247941	H1-hESC	embryonic stem cell:	embryo
35	chr7:57248804-57248854	SAEC	small airway:	n/a
36	chr7:57247748-57247798	U87	brain:	n/a
37	chr7:57247957-57248007	HUVEC	blood vessel:	n/a
38	chr7:57247873-57247923	HEEpiC	esophagus:	n/a
39	chr7:57248455-57248505	U87	brain:	n/a
40	chr7:57247176-57247226	BJ	skin:	n/a
41	chr7:57247912-57247962	HRCEpiC	kidney:	n/a
42	chr7:57247873-57247923	A549	lung:	n/a
43	chr7:57247978-57248028	HNPCEpiC	eye:	n/a
44	chr7:57247873-57247923	IMR90	lung:	fetal
45	chr7:57247978-57248028	NHDF-neo	bronchial:	n/a
46	chr7:57246097-57246147	U87	brain:	n/a
47	chr7:57247912-57247962	RPTEC	kidney:	n/a
48	chr7:57245575-57245625	NHBE	bronchial:	n/a
49	chr7:57249065-57249115	GM19239	blood:	n/a
50	chr7:57247707-57247757	HCF	heart:	n/a

No data

Variant related genes	Relation type
GUSBP10	TF binding region
MTND1P4	TF binding region
ENSG00000228851	TF binding region
ENSG00000236692	TF binding region
MTND5P7	TF binding region
MTND2P6	TF binding region
MTND4P5	TF binding region
GUSBP10	CpG island
MTND1P4	CpG island
ENSG00000228851	CpG island
ENSG00000236692	CpG island
MTND5P7	CpG island
MTND2P6	CpG island
MTND4P5	CpG island

Extended variants
information (count: 459 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13227732	chr7:57242629-57242630	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13224308	chr7:57242643-57242644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs373823358	chr7:57242656-57242657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138695768	chr7:57242676-57242677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150570909	chr7:57242692-57242693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149354996	chr7:57242745-57242746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73353178	chr7:57242746-57242747	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183881150	chr7:57242765-57242766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73353179	chr7:57242768-57242769	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566054992	chr7:57242793-57242794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533423070	chr7:57242804-57242805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551682761	chr7:57242809-57242810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569910030	chr7:57242818-57242819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs117377801	chr7:57242856-57242857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs386713637	chr7:57242862-57242863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs28488084	chr7:57242864-57242865	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs35321435	chr7:57242865-57242866	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577667247	chr7:57242903-57242904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs372460540	chr7:57242928-57242929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145858785	chr7:57242965-57242966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188159610	chr7:57242993-57242994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545314510	chr7:57242997-57242998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112241523	chr7:57242998-57242999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575494380	chr7:57243008-57243009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs542970133	chr7:57243013-57243014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537269350	chr7:57243019-57243020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34643536	chr7:57243047-57243048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565189064	chr7:57243055-57243056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs561187419	chr7:57243097-57243098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs377020456	chr7:57243154-57243155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541074719	chr7:57243217-57243218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532773974	chr7:57243244-57243245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs533308417	chr7:57243245-57243246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551839994	chr7:57243252-57243253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563570690	chr7:57243253-57243254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531033229	chr7:57243261-57243262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138482155	chr7:57243270-57243271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191886815	chr7:57243275-57243276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184075691	chr7:57243319-57243320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111685907	chr7:57243331-57243332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535278132	chr7:57243336-57243337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79191296	chr7:57243337-57243338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571213560	chr7:57243369-57243370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369990268	chr7:57243373-57243374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190166531	chr7:57243379-57243380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575381800	chr7:57243381-57243382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143112435	chr7:57243399-57243400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554761952	chr7:57243481-57243482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573055080	chr7:57243485-57243486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181783718	chr7:57243499-57243500	ZNF genes & repeats	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57241800-57243800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr7:57242600-57243800	ZNF genes & repeats	Brain Substantia Nigra	brain
3	chr7:57242800-57243600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:57244200-57250800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:57244600-57246800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr7:57244600-57250800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr7:57244800-57245200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr7:57245000-57245200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:57247400-57248200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:57249600-57250400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:57249800-57250800	ZNF genes & repeats	Pancreas	Pancrea
12	chr7:57254000-57254800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr7:57254400-57254600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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