Variant report

Variant	esv3378587
Chromosome Location	chr8:120387820-120408400
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	CTCF	chr8:120394924-120394957	GM10248	blood:	n/a	n/a
2	CTCF	chr8:120388866-120388961	LNCaP	prostate:	n/a	n/a
3	CTCF	chr8:120393691-120393770	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr8:120388895-120388943	MCF-7	breast:	n/a	n/a
5	CTCF	chr8:120388820-120388970	HepG2	liver:	n/a	n/a
6	CTCF	chr8:120388879-120388986	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:120388856-120388946	LNCaP	prostate:	n/a	n/a
8	CTCF	chr8:120404200-120404350	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr8:120388824-120388969	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:120403280-120403430	MCF-7	breast:	n/a	n/a
11	CTCF	chr8:120388874-120388915	MCF-7	breast:	n/a	n/a
12	E2F4	chr8:120403225-120403297	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr8:120388869-120389121	HepG2	liver:	n/a	n/a
14	FOXA1	chr8:120388816-120389219	HepG2	liver:	n/a	n/a
15	FOXA2	chr8:120388858-120389042	HepG2	liver:	n/a	n/a
16	FOXA2	chr8:120388741-120389097	A549	lung:	n/a	n/a
17	GATA3	chr8:120402897-120403273	T-47D	breast:	n/a	n/a
18	HNF4A	chr8:120401634-120401873	HepG2	liver:	n/a	chr8:120401778-120401790 chr8:120401776-120401790 chr8:120401749-120401763 chr8:120401751-120401763 chr8:120401776-120401789 chr8:120401776-120401789
19	HNF4A	chr8:120401627-120401904	HepG2	liver:	n/a	chr8:120401778-120401790 chr8:120401776-120401790 chr8:120401749-120401763 chr8:120401751-120401763 chr8:120401776-120401789 chr8:120401776-120401789
20	HNF4G	chr8:120401641-120401830	HepG2	liver:	n/a	chr8:120401778-120401790 chr8:120401776-120401790 chr8:120401749-120401763 chr8:120401751-120401763 chr8:120401776-120401789 chr8:120401776-120401789
21	POLR2A	chr8:120406617-120406678	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr8:120406351-120406495	ProgFib	skin:	n/a	n/a
23	POLR2A	chr8:120402479-120402482	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr8:120403754-120403797	ProgFib	skin:	n/a	n/a
25	RAD21	chr8:120388865-120389046	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr8:120390761-120390897	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120402683..120404857-chr8:120409284..120411221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206776	TF binding region

Extended variants
information (count: 418 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558319018	chr8:120387858-120387859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115848335	chr8:120387927-120387928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148078509	chr8:120387959-120387960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561406663	chr8:120387967-120387968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199877062	chr8:120387981-120387982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192316513	chr8:120388054-120388055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543777671	chr8:120388061-120388062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375928954	chr8:120388070-120388071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140929234	chr8:120388084-120388085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533243604	chr8:120388096-120388097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201219331	chr8:120388110-120388111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202046207	chr8:120388118-120388119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551329281	chr8:120388135-120388136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566658173	chr8:120388163-120388164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184751844	chr8:120388195-120388196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200003149	chr8:120388210-120388211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201175966	chr8:120388230-120388231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547130058	chr8:120388252-120388253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568536132	chr8:120388253-120388254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535876532	chr8:120388265-120388266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550978541	chr8:120388298-120388299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118046715	chr8:120388308-120388309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540122234	chr8:120388316-120388317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145017058	chr8:120388365-120388366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573395638	chr8:120388388-120388389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200385045	chr8:120388395-120388396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189145266	chr8:120388401-120388402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573792308	chr8:120388447-120388448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534098920	chr8:120388453-120388454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555065567	chr8:120388475-120388476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117176766	chr8:120388529-120388530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553049876	chr8:120388556-120388557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139015648	chr8:120388561-120388562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562137294	chr8:120388572-120388573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2927018	chr8:120388616-120388617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544964464	chr8:120388623-120388624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545293145	chr8:120388630-120388631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560151255	chr8:120388642-120388643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142253662	chr8:120388644-120388645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549174711	chr8:120388672-120388673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562195448	chr8:120388679-120388680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529397287	chr8:120388689-120388690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145746012	chr8:120388711-120388712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569237418	chr8:120388716-120388717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372996120	chr8:120388739-120388740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200229290	chr8:120388740-120388741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552067659	chr8:120388750-120388751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567026849	chr8:120388752-120388753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534153127	chr8:120388808-120388809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181080146	chr8:120388809-120388810	Weak transcription	n/a	n/a	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120387800-120388200	Enhancers	Fetal Muscle Leg	muscle
2	chr8:120388200-120389200	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:120389200-120389400	Enhancers	Fetal Muscle Leg	muscle
4	chr8:120395400-120396400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:120395800-120396200	Enhancers	Fetal Muscle Leg	muscle
6	chr8:120398800-120399000	Enhancers	Aorta	Aorta
7	chr8:120399000-120412600	Weak transcription	Aorta	Aorta
8	chr8:120401800-120402000	Enhancers	Liver	Liver
9	chr8:120401800-120402000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:120402200-120403200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:120402600-120403800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:120403200-120403600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:120408400-120408600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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