Variant report

Variant	nsv960849
Chromosome Location	chr19:44468626-44470058
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	CTCF	chr19:44470000-44470150	GM12866	blood:	n/a	n/a
2	JUND	chr19:44468445-44468678	HepG2	liver:	n/a	n/a
3	MAFK	chr19:44469992-44470034	HepG2	liver:	n/a	n/a
4	SETDB1	chr19:44469920-44471008	U2OS	brain:	n/a	n/a
5	TCF12	chr19:44469962-44471201	A549	lung:	n/a	n/a
6	WRNIP1	chr19:44468928-44468930	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZNF155	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139540846	chr19:44468628-44468629	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143539282	chr19:44468716-44468717	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566038038	chr19:44468752-44468753	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200031737	chr19:44468775-44468776	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72001524	chr19:44468777-44468778	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138273213	chr19:44468779-44468780	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375355509	chr19:44468782-44468783	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183803737	chr19:44468795-44468796	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377174	chr19:44468818-44468819	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571582332	chr19:44468821-44468822	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558782275	chr19:44468822-44468823	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375070375	chr19:44468838-44468839	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147185048	chr19:44468853-44468854	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117943491	chr19:44468874-44468875	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573643457	chr19:44468922-44468923	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61254478	chr19:44468931-44468932	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140507828	chr19:44468981-44468982	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576262108	chr19:44468983-44468984	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545211722	chr19:44468988-44468989	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201843749	chr19:44469025-44469026	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10451441	chr19:44469034-44469035	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs202072249	chr19:44469069-44469070	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201103820	chr19:44469117-44469118	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199854287	chr19:44469126-44469127	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373118384	chr19:44469128-44469129	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149429741	chr19:44469139-44469140	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561165577	chr19:44469165-44469166	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202105923	chr19:44469184-44469185	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550036064	chr19:44469186-44469187	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562658818	chr19:44469187-44469188	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201348781	chr19:44469196-44469197	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375753334	chr19:44469207-44469208	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146401193	chr19:44469210-44469211	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149734602	chr19:44469213-44469214	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199624491	chr19:44469215-44469216	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375723067	chr19:44469219-44469220	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200444244	chr19:44469258-44469259	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201754000	chr19:44469264-44469265	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187667697	chr19:44469265-44469266	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369647859	chr19:44469275-44469276	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113177719	chr19:44469327-44469328	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373116767	chr19:44469334-44469335	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190601331	chr19:44469343-44469344	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370989814	chr19:44469346-44469347	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200878736	chr19:44469350-44469351	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144209644	chr19:44469387-44469388	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376915893	chr19:44469388-44469389	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370517227	chr19:44469399-44469400	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146082564	chr19:44469402-44469403	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374573607	chr19:44469407-44469408	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
2	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
4	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44461800-44475200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:44462000-44475000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:44462200-44474800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr19:44462200-44475600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:44462200-44475800	ZNF genes & repeats	Fetal Lung	lung
11	chr19:44462200-44476600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr19:44462400-44475400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:44462800-44475400	ZNF genes & repeats	Brain Anterior Caudate	brain
14	chr19:44463000-44478800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:44463200-44475600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr19:44463200-44475600	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr19:44463400-44476400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:44464000-44475000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:44464400-44475800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:44465600-44468800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr19:44465600-44469000	Weak transcription	Fetal Stomach	stomach
22	chr19:44465600-44475400	ZNF genes & repeats	Fetal Brain Male	brain
23	chr19:44465800-44475400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:44466200-44473200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:44466200-44475000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:44466200-44475200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:44466200-44475600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
28	chr19:44466400-44474800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44466400-44474800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr19:44466400-44474800	ZNF genes & repeats	Ovary	ovary
31	chr19:44466400-44475000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:44466400-44475600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44466400-44476200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr19:44466400-44480000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:44466600-44470200	Weak transcription	Fetal Thymus	thymus
36	chr19:44466600-44472800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
37	chr19:44466600-44474600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:44466600-44474600	ZNF genes & repeats	Dnd41	blood
39	chr19:44466600-44474800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
40	chr19:44466600-44474800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr19:44466600-44475000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:44466600-44475000	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr19:44466600-44475000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr19:44466600-44475000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
45	chr19:44466600-44475400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:44466600-44475400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr19:44466800-44471600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr19:44466800-44473200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr19:44466800-44475000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr19:44466800-44475000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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