Variant report

Variant	esv2610413
Chromosome Location	chr19:38450855-38452377
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	EBF1	chr19:38449960-38450875	GM12878	blood:	n/a	chr19:38450479-38450490

Variant related genes	Relation type
ENSG00000268051	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533239281	chr19:38450909-38450910	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147762430	chr19:38450911-38450912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566624584	chr19:38450935-38450936	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534475824	chr19:38450965-38450966	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs553171674	chr19:38450968-38450969	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs353420	chr19:38450981-38450982	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs71354960	chr19:38451000-38451001	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs535768931	chr19:38451002-38451003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376092381	chr19:38451026-38451027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185531532	chr19:38451033-38451034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs60821140	chr19:38451061-38451062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80261932	chr19:38451062-38451063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575277630	chr19:38451103-38451104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187914358	chr19:38451168-38451169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557840655	chr19:38451200-38451201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572905252	chr19:38451229-38451230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565005683	chr19:38451289-38451290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs353419	chr19:38451292-38451293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs145160318	chr19:38451354-38451355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544541200	chr19:38451357-38451358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375988955	chr19:38451358-38451359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112853834	chr19:38451407-38451408	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533107366	chr19:38451422-38451423	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551368864	chr19:38451482-38451483	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62108376	chr19:38451496-38451497	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192699069	chr19:38451499-38451500	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs114897841	chr19:38451507-38451508	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111678541	chr19:38451509-38451510	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs201245786	chr19:38451512-38451513	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535305719	chr19:38451513-38451514	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377133438	chr19:38451514-38451515	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569176865	chr19:38451551-38451552	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539401097	chr19:38451555-38451556	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs353417	chr19:38451611-38451612	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs113402191	chr19:38451615-38451616	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572849964	chr19:38451649-38451650	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540352955	chr19:38451652-38451653	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572078985	chr19:38451657-38451658	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555668551	chr19:38451681-38451682	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571471410	chr19:38451684-38451685	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574145458	chr19:38451774-38451775	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532661796	chr19:38451810-38451811	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536286169	chr19:38451811-38451812	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561711070	chr19:38451845-38451846	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562798558	chr19:38451967-38451968	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577955879	chr19:38452014-38452015	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184508091	chr19:38452029-38452030	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs528846887	chr19:38452072-38452073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560562172	chr19:38452202-38452203	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs527768195	chr19:38452222-38452223	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38425000-38454000	Weak transcription	HSMMtube	muscle
2	chr19:38430600-38453600	Weak transcription	Aorta	Aorta
3	chr19:38434400-38451800	Weak transcription	Primary T cells from cord blood	blood
4	chr19:38438400-38455600	Enhancers	Primary B cells from peripheral blood	blood
5	chr19:38439600-38453000	Weak transcription	Gastric	stomach
6	chr19:38441400-38456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:38444000-38453200	Weak transcription	Pancreas	Pancrea
8	chr19:38444200-38453800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:38444600-38453600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:38444600-38456800	Weak transcription	Colonic Mucosa	Colon
11	chr19:38445200-38452000	Weak transcription	NH-A	brain
12	chr19:38445200-38453200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:38445200-38453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:38445200-38456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:38445200-38456400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:38445400-38457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:38445600-38451800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:38445600-38453200	Weak transcription	Fetal Intestine Large	intestine
19	chr19:38446400-38456600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:38447000-38452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:38447000-38453200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:38448000-38453200	Weak transcription	Stomach Mucosa	stomach
23	chr19:38448600-38451000	ZNF genes & repeats	A549	lung
24	chr19:38449000-38451400	Weak transcription	Fetal Intestine Small	intestine
25	chr19:38449000-38451600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:38449600-38451000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr19:38449600-38451000	Flanking Active TSS	GM12878-XiMat	blood
28	chr19:38449800-38451000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr19:38449800-38456800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:38450000-38452000	Weak transcription	HUVEC	blood vessel
31	chr19:38450200-38451000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr19:38450200-38453200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:38450400-38452000	Weak transcription	NHDF-Ad	bronchial
34	chr19:38450400-38453200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:38450600-38451000	Enhancers	HSMM	muscle
36	chr19:38450600-38453200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:38450800-38451000	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:38450800-38451000	Enhancers	Ovary	ovary
39	chr19:38450800-38452000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:38450800-38452200	Weak transcription	Osteobl	bone
41	chr19:38451000-38451800	Enhancers	Primary B cells from cord blood	blood
42	chr19:38451000-38451800	Weak transcription	A549	lung
43	chr19:38451000-38452000	Enhancers	GM12878-XiMat	blood
44	chr19:38451000-38452200	Weak transcription	HSMM	muscle
45	chr19:38451000-38453200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:38451000-38453200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:38451000-38453200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:38451000-38454000	Weak transcription	Ovary	ovary
49	chr19:38451400-38452000	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr19:38451600-38452200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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