Variant report

Variant	esv2399726
Chromosome Location	chr19:53087005-53087009
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	POLR2A	chr19:53086790-53087472	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:53086829-53087422	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:53086723-53087881	K562	blood:	n/a	n/a
4	POLR2A	chr19:53086869-53087516	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:53086793-53087421	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:53086872-53087130	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:53073504..53075016-chr19:53086712..53089202,2	MCF-7	breast:
2	chr19:53085553..53087688-chr19:53089270..53091312,2	MCF-7	breast:
3	chr19:53086321..53088746-chr19:53090945..53093130,2	K562	blood:

Variant related genes	Relation type
ZNF137P	TF binding region
ENSG00000167562	chromatin interactions
ENSG00000123870	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113433698	chr19:53087005-53087006	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs59503738	chr19:53087007-53087008	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:53074600-53087400	Weak transcription	Fetal Heart	heart
3	chr19:53074600-53088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
5	chr19:53075400-53089600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:53075400-53092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:53075400-53092400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:53075400-53092400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:53075600-53087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:53075800-53087400	Strong transcription	Osteobl	bone
11	chr19:53075800-53088000	Strong transcription	Rectal Smooth Muscle	rectum
12	chr19:53076400-53096000	Strong transcription	Dnd41	blood
13	chr19:53077600-53088000	Strong transcription	Fetal Brain Female	brain
14	chr19:53079200-53087400	Strong transcription	Brain Anterior Caudate	brain
15	chr19:53079200-53087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:53079200-53092200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:53079400-53087400	Strong transcription	Brain Germinal Matrix	brain
18	chr19:53079400-53087600	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:53079400-53087600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:53079400-53088000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr19:53079400-53089400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr19:53079400-53090400	ZNF genes & repeats	Liver	Liver
23	chr19:53079400-53092200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:53079400-53094200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:53079400-53096000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr19:53079600-53089600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:53079600-53091800	ZNF genes & repeats	Thymus	Thymus
28	chr19:53079800-53089200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:53079800-53091000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:53080200-53089400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:53081600-53087200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr19:53081600-53088400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:53081600-53090200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
34	chr19:53082200-53089200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
35	chr19:53082800-53089200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr19:53083200-53087400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:53083200-53087600	Strong transcription	Left Ventricle	heart
38	chr19:53083200-53091000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:53083400-53087400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:53083400-53088000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:53083400-53088800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr19:53083400-53089200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr19:53083400-53090400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
44	chr19:53083400-53091000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:53083600-53087200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:53083600-53087400	Strong transcription	Brain Substantia Nigra	brain
47	chr19:53083600-53087600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:53083600-53087600	Strong transcription	Adipose Nuclei	Adipose
49	chr19:53083600-53087600	Strong transcription	Fetal Lung	lung
50	chr19:53083600-53087600	Strong transcription	Gastric	stomach

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