Variant report

Variant	nsv524460
Chromosome Location	chr19:44352688-44372015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44341545..44343672-chr19:44355013..44357623,2	K562	blood:
2	chr19:44352671..44354386-chr19:44358392..44361083,2	MCF-7	breast:
3	chr19:44355034..44358030-chr19:44358600..44360589,3	K562	blood:
4	chr14:50470505..50471181-chr19:44358025..44358525,2	HCT-116	colon:
5	chr19:44355034..44358030-chr19:44358600..44360589,3	K562	blood:
6	chr19:44346181..44347972-chr19:44350637..44353162,2	K562	blood:
7	chr19:44352671..44354386-chr19:44358392..44361083,2	MCF-7	breast:
8	chr19:44361768..44363729-chr19:44402650..44405241,2	K562	blood:

No data

Extended variants
information (count: 675 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386809610	chr19:44352688-44352689	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10417624	chr19:44352690-44352691	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554030657	chr19:44352716-44352717	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369354697	chr19:44352725-44352726	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199984430	chr19:44352753-44352754	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs17712471	chr19:44352769-44352770	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201138583	chr19:44352819-44352820	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369503282	chr19:44352836-44352837	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143007018	chr19:44352839-44352840	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111392284	chr19:44352882-44352883	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549540204	chr19:44352885-44352886	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376733259	chr19:44352909-44352910	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369577372	chr19:44352913-44352914	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2195981	chr19:44352971-44352972	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112612067	chr19:44353009-44353010	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551663307	chr19:44353070-44353071	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2217669	chr19:44353080-44353081	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2356438	chr19:44353083-44353084	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543549437	chr19:44353095-44353096	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2356439	chr19:44353131-44353132	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574062342	chr19:44353138-44353139	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7258485	chr19:44353242-44353243	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555534044	chr19:44353251-44353252	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376486871	chr19:44353276-44353277	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544454100	chr19:44353306-44353307	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561782770	chr19:44353351-44353352	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs367719619	chr19:44353354-44353355	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7259647	chr19:44353383-44353384	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7258930	chr19:44353384-44353385	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560459040	chr19:44353394-44353395	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560226170	chr19:44353395-44353396	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs34438909	chr19:44353398-44353399	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs150016517	chr19:44353448-44353449	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7258953	chr19:44353454-44353455	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557286572	chr19:44353584-44353585	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs144330727	chr19:44353739-44353740	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs531824626	chr19:44353755-44353756	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73563544	chr19:44353821-44353822	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552309521	chr19:44353832-44353833	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148775148	chr19:44353894-44353895	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534239360	chr19:44354023-44354024	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs115280058	chr19:44354056-44354057	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs199592126	chr19:44354118-44354119	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs1549956	chr19:44354138-44354139	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536747912	chr19:44354155-44354156	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs10500288	chr19:44354180-44354181	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1549957	chr19:44354238-44354239	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538065751	chr19:44354285-44354286	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1549958	chr19:44354295-44354296	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372878311	chr19:44354341-44354342	Weak transcription ZNF genes & repeats Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
2	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
12	chr19:44338000-44352800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:44339000-44352800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
14	chr19:44339000-44355400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr19:44339200-44355400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:44339200-44355400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr19:44339200-44357200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:44339400-44355400	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr19:44339400-44355600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:44339600-44355400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr19:44340800-44353000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:44341000-44354200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr19:44341000-44355400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:44341000-44357200	ZNF genes & repeats	Brain Anterior Caudate	brain
25	chr19:44341200-44354800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr19:44341200-44357200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:44342000-44353000	ZNF genes & repeats	NH-A	brain
28	chr19:44342200-44355400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
29	chr19:44343000-44352800	ZNF genes & repeats	Fetal Kidney	kidney
30	chr19:44345800-44355400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
31	chr19:44347600-44354600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:44347600-44354600	Weak transcription	Fetal Stomach	stomach
33	chr19:44348600-44355400	ZNF genes & repeats	HSMM	muscle
34	chr19:44348600-44357000	ZNF genes & repeats	Fetal Brain Female	brain
35	chr19:44349200-44357200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:44349800-44353000	ZNF genes & repeats	K562	blood
37	chr19:44349800-44354600	ZNF genes & repeats	Fetal Heart	heart
38	chr19:44349800-44355200	ZNF genes & repeats	NHEK	skin
39	chr19:44350000-44354000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr19:44350400-44352800	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr19:44350400-44352800	ZNF genes & repeats	Left Ventricle	heart
42	chr19:44350400-44352800	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr19:44350400-44352800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
44	chr19:44350400-44353000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:44350400-44353000	ZNF genes & repeats	Dnd41	blood
46	chr19:44350400-44354000	ZNF genes & repeats	NHDF-Ad	bronchial
47	chr19:44350400-44355200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr19:44350400-44355600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:44350400-44355600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr19:44350400-44355800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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