Variant report

Variant	esv1803306
Chromosome Location	chr8:114406930-114423622
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	chr8:114410760-114410910	HCT-116	colon:	n/a	n/a
2	E2F4	chr8:114409039-114409295	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:114416086-114416180	MCF10A-Er-Src	breast:	n/a	chr8:114416125-114416135 chr8:114416125-114416135 chr8:114416126-114416135
4	FOXP2	chr8:114418064-114418403	SK-N-MC	brain:	n/a	n/a
5	FOXP2	chr8:114418150-114418324	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr8:114416060-114416095	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:114418544-114418760	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:114415251-114415434	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:114415634-114416363	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr8:114410189-114410209	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:114406761-114407147	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:114408056-114408126	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:114419006-114419012	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr8:114407692-114407696	MCF-7	breast:	n/a	n/a
15	POLR2A	chr8:114415959-114416148	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:114407568-114407672	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:114407621-114407658	MCF-7	breast:	n/a	n/a
18	POLR2A	chr8:114417914-114418425	SK-N-MC	brain:	n/a	n/a
19	RCOR1	chr8:114422547-114422552	K562	blood:	n/a	n/a
20	RFX5	chr8:114409545-114409560	K562	blood:	n/a	n/a
21	SPI1	chr8:114407047-114407281	HL-60	blood:	n/a	n/a
22	STAT3	chr8:114408422-114408577	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr8:114414885-114414889	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114404848..114406539-chr8:114407896..114409695,2	K562	blood:

Variant related genes	Relation type
ENSG00000221610	TF binding region

Extended variants
information (count: 393 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577547231	chr8:114406970-114406971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185774158	chr8:114406975-114406976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556774636	chr8:114406991-114406992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576329136	chr8:114407005-114407006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529888804	chr8:114407026-114407027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542161191	chr8:114407027-114407028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575901965	chr8:114407028-114407029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182488327	chr8:114407037-114407038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548607776	chr8:114407048-114407049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572522192	chr8:114407054-114407055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558080239	chr8:114407092-114407093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150537045	chr8:114407100-114407101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549917751	chr8:114407138-114407139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569919257	chr8:114407162-114407163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188054044	chr8:114407163-114407164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139555006	chr8:114407172-114407173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565868527	chr8:114407181-114407182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534545867	chr8:114407212-114407213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369050030	chr8:114407216-114407217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542630579	chr8:114407277-114407278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149723650	chr8:114407279-114407280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561367066	chr8:114407298-114407299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571261780	chr8:114407310-114407311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61147951	chr8:114407314-114407315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191940147	chr8:114407332-114407333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183278875	chr8:114407377-114407378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147413753	chr8:114407421-114407422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187273757	chr8:114407468-114407469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535731638	chr8:114407574-114407575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76095328	chr8:114407589-114407590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77874291	chr8:114407591-114407592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192153437	chr8:114407598-114407599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572277825	chr8:114407639-114407640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12676699	chr8:114407694-114407695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564564467	chr8:114407695-114407696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386728910	chr8:114407709-114407710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184458553	chr8:114407728-114407729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566333393	chr8:114407741-114407742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199644396	chr8:114407771-114407772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74879650	chr8:114407837-114407838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34549872	chr8:114407838-114407839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79224800	chr8:114407966-114407967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563666111	chr8:114407976-114407977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555390404	chr8:114407986-114407987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529342271	chr8:114407998-114407999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577899094	chr8:114408002-114408003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549280804	chr8:114408040-114408041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145321545	chr8:114408119-114408120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528246716	chr8:114408232-114408233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187891902	chr8:114408293-114408294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Breast cancer	17603634	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
Cancer	20164919	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	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114399800-114415000	Weak transcription	Fetal Lung	lung
2	chr8:114415000-114418400	Enhancers	Fetal Lung	lung

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