Variant report

Variant	esv2374967
Chromosome Location	chr8:103513738-103513739
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	ATF1	chr8:103513411-103513751	K562	blood:	n/a	n/a
2	BHLHE40	chr8:103513428-103513822	K562	blood:	n/a	n/a
3	CBX3	chr8:103513286-103513807	K562	blood:	n/a	n/a
4	CEBPB	chr8:103513415-103513813	K562	blood:	n/a	n/a
5	CEBPB	chr8:103513442-103513823	K562	blood:	n/a	n/a
6	CEBPD	chr8:103513387-103513901	K562	blood:	n/a	n/a
7	CEBPD	chr8:103513303-103513873	K562	blood:	n/a	n/a
8	EGR1	chr8:103513466-103513790	K562	blood:	n/a	n/a
9	EP300	chr8:103513437-103513819	K562	blood:	n/a	n/a
10	GABPA	chr8:103513432-103513763	K562	blood:	n/a	n/a
11	GATA1	chr8:103513224-103513933	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
12	GATA1	chr8:103513491-103513783	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
13	GATA2	chr8:103513378-103513794	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
14	GATA2	chr8:103513361-103513821	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
15	GATA2	chr8:103513386-103513791	K562	blood:	n/a	chr8:103513589-103513605 chr8:103513593-103513602
16	HDAC2	chr8:103513444-103513837	K562	blood:	n/a	n/a
17	JUND	chr8:103513378-103513755	K562	blood:	n/a	n/a
18	MAZ	chr8:103513473-103513793	K562	blood:	n/a	n/a
19	MYC	chr8:103513314-103513754	K562	blood:	n/a	n/a
20	NR2F2	chr8:103513337-103514084	K562	blood:	n/a	n/a
21	NR2F2	chr8:103513355-103513856	K562	blood:	n/a	n/a
22	PML	chr8:103513342-103513819	K562	blood:	n/a	n/a
23	PML	chr8:103513374-103513813	K562	blood:	n/a	n/a
24	POLR2A	chr8:103513509-103513777	K562	blood:	n/a	n/a
25	POLR2A	chr8:103513457-103513738	K562	blood:	n/a	n/a
26	RCOR1	chr8:103513354-103513829	K562	blood:	n/a	n/a
27	RCOR1	chr8:103513373-103513783	K562	blood:	n/a	n/a
28	STAT5A	chr8:103513324-103513837	K562	blood:	n/a	n/a
29	STAT5A	chr8:103513385-103513767	K562	blood:	n/a	n/a
30	TAL1	chr8:103513331-103513849	K562	blood:	n/a	n/a
31	TBL1XR1	chr8:103513436-103513772	K562	blood:	n/a	n/a
32	TEAD4	chr8:103513301-103513863	K562	blood:	n/a	n/a
33	TEAD4	chr8:103513346-103513822	K562	blood:	n/a	n/a
34	TRIM28	chr8:103513301-103513802	K562	blood:	n/a	n/a
35	USF1	chr8:103513527-103513772	K562	blood:	n/a	n/a
36	ZMIZ1	chr8:103513443-103513790	K562	blood:	n/a	n/a
37	ZNF384	chr8:103513600-103513777	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103502255..103505125-chr8:103511782..103514239,2	MCF-7	breast:
2	chr8:103511270..103514010-chr8:103514505..103517233,2	MCF-7	breast:

Variant related genes	Relation type
RPS12P15	TF binding region
ENSG00000240724	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 112 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11313727	chr8:103513738-103513739	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103502800-103529800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103503000-103517400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103508800-103514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:103508800-103517400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103509000-103517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:103510000-103516000	Weak transcription	Pancreas	Pancrea
7	chr8:103513200-103513800	Enhancers	HepG2	liver
8	chr8:103513200-103513800	Enhancers	K562	blood

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