Variant report

Variant	esv3357923
Chromosome Location	chr19:53158426-53160136
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	chr19:53158496-53158554	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000269825	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370758192	chr19:53158460-53158461	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs190536625	chr19:53158473-53158474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs555168791	chr19:53158476-53158477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573387789	chr19:53158498-53158499	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs371202364	chr19:53158511-53158512	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540808666	chr19:53158535-53158536	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181333485	chr19:53158542-53158543	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs186348632	chr19:53158555-53158556	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs150107863	chr19:53158556-53158557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190955589	chr19:53158559-53158560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs3745104	chr19:53158588-53158589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs34004052	chr19:53158605-53158606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566741969	chr19:53158607-53158608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182787549	chr19:53158644-53158645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371655207	chr19:53158703-53158704	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145529839	chr19:53158705-53158706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571769586	chr19:53158725-53158726	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532807632	chr19:53158726-53158727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539093185	chr19:53158753-53158754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538804291	chr19:53158771-53158772	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551008988	chr19:53158794-53158795	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569248545	chr19:53158850-53158851	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs536629723	chr19:53158864-53158865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555000280	chr19:53158874-53158875	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs3745105	chr19:53158924-53158925	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs188900611	chr19:53158937-53158938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558679738	chr19:53158953-53158954	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576540808	chr19:53158956-53158957	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs3745106	chr19:53158992-53158993	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs562221645	chr19:53159015-53159016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190795399	chr19:53159083-53159084	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs7255970	chr19:53159084-53159085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs560821714	chr19:53159113-53159114	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs58419919	chr19:53159176-53159177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs397698562	chr19:53159177-53159178	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201634260	chr19:53159180-53159181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368434018	chr19:53159182-53159183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35594547	chr19:53159209-53159210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs148971678	chr19:53159218-53159219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527531827	chr19:53159262-53159263	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552093452	chr19:53159275-53159276	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs7255536	chr19:53159302-53159303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532672671	chr19:53159315-53159316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564971550	chr19:53159372-53159373	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533390610	chr19:53159407-53159408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143774813	chr19:53159419-53159420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374657015	chr19:53159461-53159462	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs72075618	chr19:53159462-53159463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201066094	chr19:53159477-53159478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs55872114	chr19:53159479-53159480	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	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:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53141800-53160000	Weak transcription	Hela-S3	cervix
2	chr19:53148800-53160400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:53149400-53166000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:53150800-53166200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:53152000-53159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:53152000-53160000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr19:53152200-53166800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:53152200-53172000	Weak transcription	Psoas Muscle	Psoas
9	chr19:53152400-53168600	Strong transcription	Dnd41	blood
10	chr19:53152600-53159800	Strong transcription	HSMM	muscle
11	chr19:53153400-53161400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:53153400-53163400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:53153600-53184200	Weak transcription	Colonic Mucosa	Colon
14	chr19:53153800-53164000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:53154000-53158800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:53154000-53159400	Strong transcription	HMEC	breast
17	chr19:53154000-53160000	Strong transcription	K562	blood
18	chr19:53154000-53160400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:53154000-53164400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:53154000-53166200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr19:53154200-53158800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:53154200-53158800	Strong transcription	Adipose Nuclei	Adipose
23	chr19:53154200-53158800	Strong transcription	NHDF-Ad	bronchial
24	chr19:53154200-53159200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:53154200-53164000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:53154200-53166000	Strong transcription	Primary T cells from cord blood	blood
27	chr19:53154400-53158800	Strong transcription	HUVEC	blood vessel
28	chr19:53154400-53160400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:53154400-53160400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr19:53154400-53166000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:53154400-53166400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:53154600-53159000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:53154600-53160400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr19:53154600-53164200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:53154600-53164600	Strong transcription	Fetal Muscle Leg	muscle
36	chr19:53154600-53168600	Strong transcription	Fetal Stomach	stomach
37	chr19:53154800-53158600	Strong transcription	Brain Germinal Matrix	brain
38	chr19:53154800-53159400	Strong transcription	Gastric	stomach
39	chr19:53154800-53160800	Strong transcription	NHEK	skin
40	chr19:53154800-53161400	Weak transcription	HepG2	liver
41	chr19:53154800-53163600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:53154800-53165400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:53155000-53163600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:53155000-53191400	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:53155200-53159000	Strong transcription	Fetal Intestine Large	intestine
46	chr19:53155200-53164200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:53155200-53165000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:53155400-53158600	Strong transcription	Right Ventricle	heart
49	chr19:53155400-53158600	Strong transcription	NHLF	lung
50	chr19:53155400-53158800	Strong transcription	Ovary	ovary

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