Variant report

Variant	nsv963068
Chromosome Location	chr19:52587475-52588161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52586512..52588312-chr19:52591776..52593948,2	K562	blood:
2	chr19:52530731..52533530-chr19:52587536..52590204,3	K562	blood:
3	chr19:52587609..52589157-chr19:52597921..52600004,2	MCF-7	breast:
4	chr19:52357534..52360179-chr19:52587172..52589645,2	K562	blood:

Variant related genes	Relation type
ENSG00000142556	chromatin interactions
ENSG00000256087	chromatin interactions
ENSG00000197608	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56334318	chr19:52587475-52587476	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558883094	chr19:52587531-52587532	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs374868929	chr19:52587536-52587537	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577098925	chr19:52587552-52587553	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543850292	chr19:52587599-52587600	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12611043	chr19:52587625-52587626	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574053290	chr19:52587629-52587630	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139832406	chr19:52587651-52587652	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559966303	chr19:52587683-52587684	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs181984856	chr19:52587737-52587738	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs545665478	chr19:52587798-52587799	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs34465624	chr19:52587829-52587830	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs560061280	chr19:52587858-52587859	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs531637624	chr19:52587862-52587863	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs207477252	chr19:52587869-52587870	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs11084141	chr19:52587907-52587908	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs11084142	chr19:52587917-52587918	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs149907187	chr19:52587928-52587929	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548677778	chr19:52587929-52587930	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372824507	chr19:52587938-52587939	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs377045580	chr19:52587971-52587972	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs144928386	chr19:52587977-52587978	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs570850255	chr19:52587982-52587983	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs538156713	chr19:52588071-52588072	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556392103	chr19:52588155-52588156	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs141979833	chr19:52588161-52588162	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	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
Adrenocortical carcinoma	18281524	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
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52561000-52597400	ZNF genes & repeats	Liver	Liver
2	chr19:52561000-52597600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:52562800-52595400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:52562800-52597400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:52563600-52597400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:52563800-52597200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:52564800-52596200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr19:52565400-52597200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:52568800-52588800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr19:52571600-52591600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
11	chr19:52574200-52597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:52574600-52594200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr19:52575200-52593000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:52575200-52596400	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr19:52576600-52596600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:52576800-52592200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:52578200-52597800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:52578400-52588000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:52579000-52595600	Strong transcription	Osteobl	bone
20	chr19:52579800-52588200	Strong transcription	Fetal Kidney	kidney
21	chr19:52580400-52588200	Weak transcription	Fetal Heart	heart
22	chr19:52580600-52596800	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr19:52581200-52592800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:52581400-52587600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:52581400-52587600	Strong transcription	HSMM	muscle
26	chr19:52581400-52587800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:52581600-52587600	Weak transcription	Psoas Muscle	Psoas
28	chr19:52582200-52588200	Strong transcription	Placenta	Placenta
29	chr19:52582600-52594200	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:52582600-52596400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:52582600-52596800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr19:52582600-52597000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:52582800-52589000	ZNF genes & repeats	Ovary	ovary
34	chr19:52582800-52589600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr19:52582800-52590200	Strong transcription	NH-A	brain
36	chr19:52582800-52593200	Strong transcription	HSMMtube	muscle
37	chr19:52582800-52596400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr19:52582800-52597800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:52583200-52588000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr19:52583400-52597400	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr19:52583600-52592200	Strong transcription	Brain Substantia Nigra	brain
42	chr19:52583600-52599600	ZNF genes & repeats	GM12878-XiMat	blood
43	chr19:52584000-52587800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:52584000-52588600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:52584000-52595000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:52584200-52588600	Weak transcription	Fetal Brain Male	brain
47	chr19:52584200-52592200	Weak transcription	Stomach Mucosa	stomach
48	chr19:52584200-52595200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr19:52584400-52587600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr19:52584400-52588400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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