Variant report

Variant	esv1831977
Chromosome Location	chr8:120071144-120076264
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	CEBPB	chr8:120075536-120075888	A549	lung:	n/a	chr8:120075710-120075721
2	CEBPB	chr8:120075550-120075883	H1-hESC	embryonic stem cell:	n/a	chr8:120075710-120075721
3	CEBPB	chr8:120075557-120075926	ECC-1	luminal epithelium:	n/a	chr8:120075710-120075721
4	CEBPB	chr8:120073999-120074133	A549	lung:	n/a	chr8:120074022-120074033
5	CEBPB	chr8:120075504-120076119	Hela-S3	cervix:	n/a	chr8:120075710-120075721
6	CEBPB	chr8:120075529-120075904	IMR90	lung:	n/a	chr8:120075710-120075721
7	CEBPB	chr8:120075495-120075927	MCF-7	breast:	n/a	chr8:120075710-120075721
8	CEBPB	chr8:120075418-120075942	MCF-7	breast:	n/a	chr8:120075710-120075721
9	CEBPB	chr8:120073950-120074092	HepG2	liver:	n/a	chr8:120074022-120074033
10	CEBPB	chr8:120075550-120075781	K562	blood:	n/a	chr8:120075710-120075721
11	CEBPB	chr8:120075554-120075934	A549	lung:	n/a	chr8:120075710-120075721
12	CEBPB	chr8:120075533-120075898	HepG2	liver:	n/a	chr8:120075710-120075721
13	CTCF	chr8:120071740-120071890	HCM	heart:	n/a	n/a
14	CTCF	chr8:120071840-120071990	MCF-7	breast:	n/a	n/a
15	CTCF	chr8:120071760-120071910	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr8:120075640-120075790	Caco-2	colon:	n/a	n/a
17	POLR2A	chr8:120073334-120073392	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:120074776-120074856	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119884867..119886696-chr8:120073513..120075509,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF11B-1	chr8:120075181-120075479	ENSG00000254278.1

Variant related genes	Relation type
COLEC10	TF binding region

Extended variants
information (count: 202 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78198696	chr8:120071145-120071146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556530696	chr8:120071146-120071147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537718748	chr8:120071170-120071171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556326935	chr8:120071175-120071176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60979638	chr8:120071194-120071195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538825543	chr8:120071214-120071215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542228946	chr8:120071262-120071263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553939986	chr8:120071318-120071319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188759790	chr8:120071342-120071343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147316464	chr8:120071367-120071368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2450084	chr8:120071380-120071381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35944805	chr8:120071390-120071391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546031483	chr8:120071426-120071427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372660011	chr8:120071479-120071480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200155198	chr8:120071499-120071500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147055687	chr8:120071501-120071502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369393540	chr8:120071502-120071503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140713481	chr8:120071504-120071505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76006137	chr8:120071514-120071515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543695135	chr8:120071523-120071524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574279923	chr8:120071575-120071576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1485314	chr8:120071577-120071578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192012520	chr8:120071600-120071601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533397100	chr8:120071669-120071670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545177259	chr8:120071704-120071705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77040901	chr8:120071708-120071709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574746427	chr8:120071710-120071711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184568183	chr8:120071715-120071716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567103709	chr8:120071721-120071722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531643180	chr8:120071736-120071737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370464315	chr8:120071738-120071739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549848154	chr8:120071763-120071764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189278766	chr8:120071823-120071824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139371021	chr8:120071872-120071873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182064012	chr8:120071880-120071881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1485315	chr8:120071898-120071899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs370826764	chr8:120071906-120071907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566995133	chr8:120071938-120071939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1385511	chr8:120071939-120071940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs555743267	chr8:120071945-120071946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184296497	chr8:120071956-120071957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368711720	chr8:120071957-120071958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112102332	chr8:120072044-120072045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75860192	chr8:120072045-120072046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71532416	chr8:120072077-120072078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1485316	chr8:120072087-120072088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189586172	chr8:120072203-120072204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560283474	chr8:120072205-120072206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2465366	chr8:120072214-120072215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373149235	chr8:120072215-120072216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120067000-120076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:120068200-120071200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:120070600-120071200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:120071200-120072400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:120074800-120076200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120075200-120076400	Enhancers	Fetal Lung	lung
7	chr8:120075200-120077200	Enhancers	Hela-S3	cervix
8	chr8:120075400-120075800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:120075400-120075800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:120075400-120075800	Enhancers	Esophagus	oesophagus
11	chr8:120075400-120076200	Enhancers	NHDF-Ad	bronchial
12	chr8:120075800-120078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:120076000-120076200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr8:120076200-120079800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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