Variant report

Variant	esv3379880
Chromosome Location	chr8:131908231-131911290
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	E2F4	chr8:131910598-131910606	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr8:131906997-131908281	SK-N-SH	brain:	n/a	chr8:131907668-131907682
3	GATA3	chr8:131907156-131908350	SK-N-SH	brain:	n/a	chr8:131907986-131907996 chr8:131907651-131907664 chr8:131907559-131907568 chr8:131907989-131907996 chr8:131907989-131907996 chr8:131907989-131907996
4	GATA3	chr8:131907025-131908660	SK-N-SH	brain:	n/a	chr8:131907986-131907996 chr8:131907651-131907664 chr8:131907559-131907568 chr8:131907989-131907996 chr8:131907989-131907996 chr8:131907989-131907996
5	GATA3	chr8:131908516-131908651	SH-SY5Y	brain:	n/a	n/a
6	MYC	chr8:131908663-131908747	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr8:131907376-131908255	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr8:131907134-131908302	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr8:131910317-131910477	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr8:131910956-131911000	MCF10A-Er-Src	breast:	n/a	n/a
11	TCF12	chr8:131907323-131908249	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr8:131907010-131908314	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000253259	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553902894	chr8:131908279-131908280	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10956560	chr8:131908293-131908294	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117700278	chr8:131908357-131908358	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191652584	chr8:131908488-131908489	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74485277	chr8:131908498-131908499	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs543616159	chr8:131908502-131908503	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74540670	chr8:131908503-131908504	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs574272947	chr8:131908509-131908510	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs150034757	chr8:131908562-131908563	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs184604036	chr8:131908580-131908581	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10956561	chr8:131908662-131908663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544774137	chr8:131908664-131908665	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563376390	chr8:131908665-131908666	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs11779492	chr8:131908694-131908695	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145295270	chr8:131908714-131908715	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567541468	chr8:131908728-131908729	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs73346438	chr8:131908735-131908736	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563416918	chr8:131908738-131908739	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34660831	chr8:131908767-131908768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11786442	chr8:131908770-131908771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149193665	chr8:131908783-131908784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142306628	chr8:131908836-131908837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372776411	chr8:131908839-131908840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11777051	chr8:131908877-131908878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537218829	chr8:131909052-131909053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79762305	chr8:131909083-131909084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574210182	chr8:131909173-131909174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73346442	chr8:131909177-131909178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12550604	chr8:131909208-131909209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs577520024	chr8:131909245-131909246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545032878	chr8:131909251-131909252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75593679	chr8:131909271-131909272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542773998	chr8:131909323-131909324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560913261	chr8:131909398-131909399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528331274	chr8:131909408-131909409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188969481	chr8:131909412-131909413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146822658	chr8:131909487-131909488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533160812	chr8:131909529-131909530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551391449	chr8:131909601-131909602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193069285	chr8:131909612-131909613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75687443	chr8:131909647-131909648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549075226	chr8:131909666-131909667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74685823	chr8:131909687-131909688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185695165	chr8:131909772-131909773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535268009	chr8:131909773-131909774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553379965	chr8:131909782-131909783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190603509	chr8:131909802-131909803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538614588	chr8:131909815-131909816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556967320	chr8:131909828-131909829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370738314	chr8:131909923-131909924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

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
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
Acute myeloid leukemia	20729466	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
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131895800-131914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:131907600-131908800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:131911200-131911400	Enhancers	HSMM	muscle

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