Variant report

Variant	nsv981977
Chromosome Location	chr8:120467266-120495356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:120482479-120482624	HepG2	liver:	n/a	chr8:120482582-120482593
2	CTCF	chr8:120473829-120473867	GM10248	blood:	n/a	n/a
3	CTCF	chr8:120494098-120494199	GM20000	blood:	n/a	n/a
4	CTCF	chr8:120493216-120493253	Lung_OC	lung:	n/a	n/a
5	CTCF	chr8:120473821-120473878	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr8:120475480-120475630	HCT-116	colon:	n/a	n/a
7	CTCF	chr8:120492363-120492415	GM13977	blood:	n/a	n/a
8	CTCF	chr8:120475540-120475690	MCF-7	breast:	n/a	n/a
9	E2F4	chr8:120483138-120483245	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr8:120491496-120491866	HepG2	liver:	n/a	n/a
11	FOXA1	chr8:120473876-120474313	HepG2	liver:	n/a	n/a
12	FOXA2	chr8:120491554-120491897	A549	lung:	n/a	n/a
13	FOXA2	chr8:120491335-120491956	A549	lung:	n/a	n/a
14	FOXA2	chr8:120473830-120474409	A549	lung:	n/a	n/a
15	FOXA2	chr8:120473890-120474329	A549	lung:	n/a	n/a
16	MAFK	chr8:120494743-120494931	HepG2	liver:	n/a	n/a
17	MAFK	chr8:120494864-120494964	IMR90	lung:	n/a	n/a
18	MAFK	chr8:120492561-120492766	HepG2	liver:	n/a	n/a
19	MYC	chr8:120476305-120476321	MCF-7	breast:	n/a	n/a
20	MYC	chr8:120482489-120482736	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr8:120476339-120476407	MCF-7	breast:	n/a	n/a
22	MYC	chr8:120476293-120476300	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:120476188-120476430	MCF-7	breast:	n/a	n/a
24	POLR2A	chr8:120478453-120478631	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr8:120491626-120491690	ProgFib	skin:	n/a	n/a
26	POLR2A	chr8:120476259-120476423	MCF-7	breast:	n/a	n/a
27	POLR2A	chr8:120474763-120474955	ProgFib	skin:	n/a	n/a
28	POLR2A	chr8:120477853-120477984	GM12878	blood:	n/a	n/a
29	SETDB1	chr8:120474324-120474700	U2OS	brain:	n/a	n/a
30	SETDB1	chr8:120482329-120482807	U2OS	brain:	n/a	n/a
31	SETDB1	chr8:120491742-120491942	U2OS	brain:	n/a	n/a
32	STAT3	chr8:120481312-120481470	MCF10A-Er-Src	breast:	n/a	n/a
33	USF1	chr8:120489618-120489719	HepG2	liver:	n/a	n/a
34	USF2	chr8:120482626-120482668	Hela-S3	cervix:	n/a	chr8:120482630-120482641

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:182899995..182900777-chr8:120481561..120482527,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENPP2-1	chr8:120474527-120474590	ENSG00000253398.1

No data

Variant related genes	Relation type
ENSG00000253398	TF binding region
ENSG00000254037	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184095246	chr8:120474543-120474544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs559648872	chr8:120474546-120474547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185287248	chr8:120474547-120474548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs544447828	chr8:120474554-120474555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs77168520	chr8:120474563-120474564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533097641	chr8:120474564-120474565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs544600474	chr8:120474579-120474580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs559751814	chr8:120474595-120474596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562587352	chr8:120474602-120474603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371940749	chr8:120474617-120474618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527351526	chr8:120474631-120474632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548828726	chr8:120474635-120474636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568594647	chr8:120474642-120474643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112783728	chr8:120474685-120474686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529476009	chr8:120474691-120474692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547030247	chr8:120474783-120474784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545609061	chr8:120474807-120474808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs187030987	chr8:120474843-120474844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113899702	chr8:120474844-120474845	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560478955	chr8:120474851-120474852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs114541087	chr8:120474879-120474880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376252949	chr8:120474880-120474881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200746578	chr8:120474911-120474912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs544067225	chr8:120474948-120474949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs59179849	chr8:120475209-120475210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192951941	chr8:120475231-120475232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs1585518	chr8:120475238-120475239	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183234039	chr8:120475240-120475241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538869693	chr8:120475248-120475249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552123477	chr8:120475249-120475250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372486958	chr8:120475271-120475272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566824102	chr8:120475273-120475274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147649569	chr8:120475274-120475275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549397212	chr8:120475291-120475292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567650545	chr8:120475292-120475293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370810876	chr8:120475306-120475307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1599473	chr8:120475358-120475359	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs76986154	chr8:120475394-120475395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs386729240	chr8:120475434-120475435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs72686322	chr8:120475436-120475437	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558295937	chr8:120475450-120475451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572347098	chr8:120475503-120475504	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140491604	chr8:120475509-120475510	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs188690702	chr8:120475542-120475543	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs4305931	chr8:120475548-120475549	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543554483	chr8:120475554-120475555	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs371156446	chr8:120475558-120475559	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563040434	chr8:120475572-120475573	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs533566829	chr8:120475587-120475588	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552060494	chr8:120475594-120475595	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120475200-120476200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:120475200-120476400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:120495200-120496200	Enhancers	Fetal Lung	lung

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