Variant report

Variant	nsv978840
Chromosome Location	chr19:52905026-52909427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr19:52906413-52906463	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:52908275-52908437	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52905427-52905477	IMR90	lung:	fetal
2	chr19:52905427-52905477	HMEC	breast:	n/a
3	chr19:52905427-52905477	HRPEpiC	eye:	n/a
4	chr19:52905427-52905477	HCPEpiC	choroid plexus:	n/a
5	chr19:52905427-52905477	NHDF-neo	bronchial:	n/a
6	chr19:52905427-52905477	GM12891	blood:	n/a
7	chr19:52905427-52905477	GM12892	blood:	n/a
8	chr19:52905427-52905477	Hepatocyte	liver:	n/a
9	chr19:52905427-52905477	Caco-2	colon:	n/a
10	chr19:52905427-52905477	AG04449	skin:	fetal
11	chr19:52905427-52905477	LNCaP	prostate:	n/a
12	chr19:52905427-52905477	A549	lung:	n/a
13	chr19:52905427-52905477	SK-N-MC	brain:	n/a
14	chr19:52905427-52905477	ovcar-3	ovarian:	n/a
15	chr19:52905427-52905477	MCF-7	breast:	n/a
16	chr19:52905427-52905477	RPTEC	kidney:	n/a
17	chr19:52905427-52905477	SKMC	muscle:	n/a
18	chr19:52905427-52905477	AG04450	lung:	fetal
19	chr19:52905427-52905477	HCM	heart:	n/a
20	chr19:52905427-52905477	NB4	blood:	n/a
21	chr19:52905427-52905477	HAEpiC	amniotic membrane:	n/a
22	chr19:52905427-52905477	GM19239	blood:	n/a
23	chr19:52905427-52905477	HEK293	kidney:	embryo
24	chr19:52905427-52905477	HCT-116	colon:	n/a
25	chr19:52905427-52905477	AoSMC	blood vessel:	n/a
26	chr19:52905427-52905477	HUVEC	blood vessel:	n/a
27	chr19:52905427-52905477	BE2_C	brain:	n/a
28	chr19:52905427-52905477	T-47D	breast:	n/a
29	chr19:52905427-52905477	GM12878	blood:	n/a
30	chr19:52905427-52905477	HRCEpiC	kidney:	n/a
31	chr19:52905427-52905477	SK-N-SH_RA	brain:	n/a
32	chr19:52905427-52905477	NH-A	brain:	n/a
33	chr19:52905427-52905477	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:52905427-52905477	HCF	heart:	n/a
35	chr19:52905427-52905477	ProgFib	skin:	n/a
36	chr19:52905427-52905477	HL-60	blood:	n/a
37	chr19:52905427-52905477	H1-hESC	embryonic stem cell:	embryo
38	chr19:52905427-52905477	HRE	kidney:	n/a
39	chr19:52905427-52905477	AG09319	gingival:	n/a
40	chr19:52905427-52905477	PFSK-1	brain:	n/a
41	chr19:52905427-52905477	AG10803	skin:	n/a
42	chr19:52905427-52905477	PrEC	prostate:	n/a
43	chr19:52905427-52905477	HEEpiC	esophagus:	n/a
44	chr19:52905427-52905477	HNPCEpiC	eye:	n/a
45	chr19:52905427-52905477	U87	brain:	n/a
46	chr19:52905427-52905477	CMK	blood:	n/a
47	chr19:52905427-52905477	SK-N-SH	brain:	n/a
48	chr19:52905427-52905477	K562	blood:	n/a
49	chr19:52905427-52905477	PANC-1	pancreas:	n/a
50	chr19:52905427-52905477	SAEC	small airway:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52899758..52902696-chr19:52903314..52905986,3	MCF-7	breast:
2	chr19:52903104..52905523-chr19:52907320..52908934,2	K562	blood:
3	chr19:52908988..52911904-chr19:52916328..52918022,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF880-1	chr19:52905200-52905270	NONHSAT067550

No data

Variant related genes	Relation type
ZNF528	TF binding region
ENSG00000269834	TF binding region
ZNF528	CpG island
ENSG00000269834	CpG island
ENSG00000269834	chromatin interactions
ENSG00000167555	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533265161	chr19:52905053-52905054	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369910432	chr19:52905060-52905061	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs324091	chr19:52905067-52905068	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs563188970	chr19:52905073-52905074	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186687880	chr19:52905080-52905081	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145069872	chr19:52905093-52905094	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs533009109	chr19:52905117-52905118	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111440984	chr19:52905118-52905119	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529226633	chr19:52905119-52905120	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563472266	chr19:52905164-52905165	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375181459	chr19:52905219-52905220	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs372478426	chr19:52905225-52905226	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs375125735	chr19:52905240-52905241	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs369528925	chr19:52905289-52905290	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373087802	chr19:52905298-52905299	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368117443	chr19:52905311-52905312	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10414514	chr19:52905312-52905313	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376669127	chr19:52905314-52905315	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558363833	chr19:52905319-52905320	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142580022	chr19:52905384-52905385	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537660013	chr19:52905401-52905402	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533075644	chr19:52905427-52905428	Weak transcription Strong transcription ZNF genes & repeats	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs146018816	chr19:52905495-52905496	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74428658	chr19:52905496-52905497	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546351532	chr19:52905500-52905501	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369496887	chr19:52905515-52905516	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577856005	chr19:52905521-52905522	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545314081	chr19:52905528-52905529	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs191587672	chr19:52905543-52905544	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs575061137	chr19:52905546-52905547	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542416451	chr19:52905598-52905599	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181270368	chr19:52905629-52905630	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138645071	chr19:52905633-52905634	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs145518781	chr19:52905646-52905647	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs548726025	chr19:52905685-52905686	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs324090	chr19:52905736-52905737	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76770456	chr19:52905814-52905815	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs116360146	chr19:52905818-52905819	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537421702	chr19:52905825-52905826	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552070777	chr19:52905848-52905849	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534717115	chr19:52905865-52905866	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570388267	chr19:52905867-52905868	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150990	chr19:52905907-52905908	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185331326	chr19:52905934-52905935	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567238087	chr19:52905959-52905960	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534760106	chr19:52906000-52906001	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148411165	chr19:52906010-52906011	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577600511	chr19:52906020-52906021	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12462742	chr19:52906021-52906022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538261529	chr19:52906047-52906048	Weak transcription ZNF genes & repeats Strong transcription	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
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
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52901800-52905200	Weak transcription	Small Intestine	intestine
2	chr19:52901800-52905400	Weak transcription	Thymus	Thymus
3	chr19:52901800-52907000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
4	chr19:52901800-52912600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:52902000-52905400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:52902000-52905600	Weak transcription	Stomach Mucosa	stomach
7	chr19:52902000-52906200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:52902000-52906400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:52902000-52908000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:52902000-52908800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:52902000-52913800	Weak transcription	Fetal Heart	heart
12	chr19:52902200-52905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:52902200-52905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:52902200-52905400	Weak transcription	Osteobl	bone
15	chr19:52902200-52906600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:52902200-52907400	Weak transcription	NHEK	skin
17	chr19:52902200-52908800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:52902200-52909200	Strong transcription	Placenta	Placenta
19	chr19:52902200-52909800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:52902200-52913800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:52902200-52917400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:52902200-52919200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:52902400-52910400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:52902400-52913400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:52902400-52913400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:52902400-52917600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:52902600-52906400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:52902600-52906400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr19:52902600-52906600	Strong transcription	Primary T cells from cord blood	blood
30	chr19:52902600-52906800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:52902600-52907200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:52902600-52908200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:52902600-52910400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:52902600-52913000	Strong transcription	Fetal Stomach	stomach
35	chr19:52902600-52913600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:52902600-52914000	ZNF genes & repeats	Lung	lung
37	chr19:52902600-52917600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:52902600-52918200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:52902800-52906400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:52902800-52906600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr19:52902800-52912800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:52902800-52913400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr19:52902800-52914000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:52902800-52914200	Strong transcription	Brain Anterior Caudate	brain
45	chr19:52902800-52914200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:52902800-52915600	Strong transcription	HSMMtube	muscle
47	chr19:52902800-52924200	ZNF genes & repeats	Liver	Liver
48	chr19:52903000-52907200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:52903000-52911800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr19:52903000-52913000	Strong transcription	Fetal Muscle Leg	muscle

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