Variant report

Variant	esv3338813
Chromosome Location	chr8:120081521-120082569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr8:120082397-120083050	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:120081558-120081635	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr8:120082351-120083294	SK-N-SH	brain:	n/a	chr8:120082903-120082924 chr8:120082909-120082925 chr8:120082908-120082926
4	MAZ	chr8:120082566-120083468	IMR90	lung:	n/a	n/a
5	RAD21	chr8:120082293-120083199	SK-N-SH	brain:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
6	RAD21	chr8:120082175-120083235	Hela-S3	cervix:	n/a	chr8:120082906-120082925 chr8:120082916-120082923
7	RFX5	chr8:120082501-120083195	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr8:120082316-120083315	Hela-S3	cervix:	n/a	chr8:120082910-120082924
9	ZZZ3	chr8:120082477-120082937	Hela-S3	cervix:	n/a	n/a
10	ZZZ3	chr8:120082547-120082852	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119755541..119756586-chr8:120081962..120083463,9	MCF-7	breast:
2	chr8:119674415..119675263-chr8:120082432..120082985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254278	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55781186	chr8:120081573-120081574	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570300221	chr8:120081597-120081598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537637279	chr8:120081630-120081631	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568423954	chr8:120081718-120081719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570435018	chr8:120081739-120081740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56805630	chr8:120081842-120081843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138362458	chr8:120081845-120081846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200630910	chr8:120081862-120081863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67408054	chr8:120081865-120081866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375440332	chr8:120081870-120081871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183621145	chr8:120081897-120081898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552668168	chr8:120081903-120081904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188314384	chr8:120082044-120082045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201524024	chr8:120082060-120082061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1485299	chr8:120082104-120082105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373683269	chr8:120082120-120082121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377627200	chr8:120082146-120082147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556829370	chr8:120082161-120082162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575143443	chr8:120082162-120082163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545572115	chr8:120082171-120082172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537386824	chr8:120082175-120082176	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116051187	chr8:120082199-120082200	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs1485300	chr8:120082253-120082254	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73325487	chr8:120082276-120082277	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs530106405	chr8:120082307-120082308	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548945570	chr8:120082339-120082340	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs146548464	chr8:120082343-120082344	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563947613	chr8:120082399-120082400	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs571916196	chr8:120082420-120082421	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs116764763	chr8:120082434-120082435	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs552463926	chr8:120082450-120082451	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs570551926	chr8:120082476-120082477	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120080000-120082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120080000-120082600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:120080600-120082000	Weak transcription	Hela-S3	cervix
4	chr8:120080600-120082200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120080600-120083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120080600-120085200	Weak transcription	Fetal Stomach	stomach
7	chr8:120080800-120084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:120082000-120082800	Enhancers	Hela-S3	cervix
9	chr8:120082200-120082600	Enhancers	NHDF-Ad	bronchial
10	chr8:120082200-120084400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:120082400-120082600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:120082400-120082800	Enhancers	Fetal Brain Male	brain
13	chr8:120082400-120083200	Enhancers	NHLF	lung

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