Variant report

Variant	esv3435756
Chromosome Location	chr19:53217190-53219088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53215678..53217452-chr19:53219568..53222029,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563146976	chr19:53217198-53217199	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530219771	chr19:53217206-53217207	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111986493	chr19:53217213-53217214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201039152	chr19:53217223-53217224	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200001488	chr19:53217242-53217243	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370478681	chr19:53217254-53217255	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573138924	chr19:53217257-53217258	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141151906	chr19:53217269-53217270	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146947804	chr19:53217275-53217276	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146779808	chr19:53217281-53217282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375716110	chr19:53217290-53217291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs377625786	chr19:53217310-53217311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544826189	chr19:53217314-53217315	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113753785	chr19:53217320-53217321	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141724683	chr19:53217326-53217327	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147099614	chr19:53217328-53217329	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140547154	chr19:53217329-53217330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149629821	chr19:53217339-53217340	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566528679	chr19:53217350-53217351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527311203	chr19:53217355-53217356	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374539461	chr19:53217356-53217357	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111465116	chr19:53217378-53217379	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146583693	chr19:53217379-53217380	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141987068	chr19:53217390-53217391	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs367833024	chr19:53217416-53217417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371401581	chr19:53217419-53217420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs567890750	chr19:53217424-53217425	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200500923	chr19:53217430-53217431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554779219	chr19:53217433-53217434	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573258636	chr19:53217435-53217436	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533941265	chr19:53217454-53217455	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs140249203	chr19:53217455-53217456	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577660635	chr19:53217543-53217544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544902610	chr19:53217546-53217547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538364432	chr19:53217552-53217553	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563111268	chr19:53217553-53217554	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556378769	chr19:53217559-53217560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs4405657	chr19:53217564-53217565	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542382008	chr19:53217591-53217592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376405526	chr19:53217604-53217605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188186457	chr19:53217612-53217613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527340119	chr19:53217614-53217615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551796711	chr19:53217637-53217638	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs180798716	chr19:53217654-53217655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs531528707	chr19:53217689-53217690	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs549647135	chr19:53217706-53217707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs150352830	chr19:53217726-53217727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs535309829	chr19:53217727-53217728	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185730774	chr19:53217728-53217729	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566857537	chr19:53217743-53217744	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53194800-53218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:53202800-53217400	ZNF genes & repeats	Liver	Liver
3	chr19:53205600-53217400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:53206600-53217800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:53206600-53227200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:53207200-53217600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:53207200-53218800	Strong transcription	Placenta	Placenta
8	chr19:53207400-53219400	Strong transcription	Dnd41	blood
9	chr19:53208200-53219400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr19:53208400-53217400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:53208400-53218800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:53209400-53225800	Weak transcription	Hela-S3	cervix
13	chr19:53209600-53218200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:53209600-53219200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:53209600-53219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:53209600-53223800	Weak transcription	NHLF	lung
17	chr19:53209600-53224000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:53209600-53224000	Weak transcription	Right Ventricle	heart
19	chr19:53210200-53218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:53210200-53219000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:53210200-53223400	Weak transcription	Colonic Mucosa	Colon
22	chr19:53210200-53227000	Weak transcription	Fetal Heart	heart
23	chr19:53210400-53218200	Weak transcription	HUVEC	blood vessel
24	chr19:53210400-53219000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:53210400-53225200	Weak transcription	HMEC	breast
26	chr19:53210400-53236600	Weak transcription	Psoas Muscle	Psoas
27	chr19:53210600-53218600	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr19:53210600-53219000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr19:53210600-53237200	Weak transcription	NHDF-Ad	bronchial
30	chr19:53210800-53218200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:53210800-53219000	Strong transcription	Ovary	ovary
32	chr19:53211000-53219400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr19:53211400-53217400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:53211800-53217400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:53212000-53218600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:53212200-53227000	Strong transcription	Fetal Stomach	stomach
37	chr19:53212400-53218600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:53212400-53219800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:53212400-53231000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:53212600-53217400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:53212600-53218000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:53212600-53219000	Strong transcription	Gastric	stomach
43	chr19:53212600-53226800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:53212800-53217200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:53212800-53217400	ZNF genes & repeats	GM12878-XiMat	blood
46	chr19:53212800-53217800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:53213000-53218800	Strong transcription	Adipose Nuclei	Adipose
48	chr19:53213000-53219000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:53213000-53219000	Strong transcription	HSMMtube	muscle
50	chr19:53213000-53219600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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