Variant report

Variant	nsv580079
Chromosome Location	chr19:53732590-53756120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:53753956-53754068	A549	lung:	n/a	n/a
2	CEBPB	chr19:53742348-53742552	IMR90	lung:	n/a	chr19:53742417-53742428 chr19:53742415-53742426 chr19:53742415-53742428 chr19:53742415-53742428
3	CEBPB	chr19:53742347-53742580	HepG2	liver:	n/a	chr19:53742417-53742428 chr19:53742415-53742426 chr19:53742415-53742428 chr19:53742415-53742428
4	CTCF	chr19:53749784-53749840	GM13976	blood:	n/a	n/a
5	CTCF	chr19:53749780-53749930	HepG2	liver:	n/a	n/a
6	EP300	chr19:53749811-53750078	GM12878	blood:	n/a	n/a
7	GATA3	chr19:53740363-53741021	A549	lung:	n/a	n/a
8	KAP1	chr19:53740130-53741020	K562	blood:	n/a	n/a
9	KAP1	chr19:53740363-53741172	HEK293	kidney:	n/a	n/a
10	MAFF	chr19:53748602-53748832	HepG2	liver:	n/a	n/a
11	MAFK	chr19:53748603-53748868	IMR90	lung:	n/a	n/a
12	MAFK	chr19:53737612-53737857	HepG2	liver:	n/a	n/a
13	MAFK	chr19:53748605-53748879	HepG2	liver:	n/a	n/a
14	MAFK	chr19:53748570-53748886	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:53747537-53747552	A549	lung:	n/a	n/a
16	POLR2A	chr19:53735915-53735934	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr19:53747471-53747521	A549	lung:	n/a	n/a
18	POLR2A	chr19:53735793-53735918	A549	lung:	n/a	n/a
19	POLR2A	chr19:53744744-53744904	HUVEC	blood vessel:	n/a	n/a
20	SETDB1	chr19:53740044-53741079	K562	blood:	n/a	n/a
21	SETDB1	chr19:53740016-53741228	U2OS	brain:	n/a	n/a
22	SPI1	chr19:53749773-53750042	GM12878	blood:	n/a	n/a
23	SPI1	chr19:53749726-53750094	GM12891	blood:	n/a	n/a
24	SPI1	chr19:53749527-53750235	GM12878	blood:	n/a	n/a
25	SPI1	chr19:53749728-53750166	GM12891	blood:	n/a	n/a
26	SPI1	chr19:53749786-53750033	GM12878	blood:	n/a	n/a
27	ZNF143	chr19:53740406-53740920	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr19:53740585-53740591	GM12878	blood:	n/a	n/a
29	ZNF274	chr19:53740315-53741226	GM12878	blood:	n/a	n/a
30	ZNF274	chr19:53739762-53741340	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF274	chr19:53740326-53741278	GM08714	blood:	n/a	n/a
32	ZNF274	chr19:53740273-53740977	HepG2	liver:	n/a	n/a
33	ZNF274	chr19:53740330-53741105	K562	blood:	n/a	n/a
34	ZNF274	chr19:53739663-53741983	K562	blood:	n/a	n/a
35	ZNF274	chr19:53739976-53741291	NT2-D1	testis:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53739025-53739075	HPAEpiC	pulmonary alveolar:	n/a
2	chr19:53739025-53739075	AG10803	skin:	n/a
3	chr19:53739025-53739075	NHDF-neo	bronchial:	n/a
4	chr19:53754612-53754662	HL-60	blood:	n/a
5	chr19:53754612-53754662	BJ	skin:	n/a
6	chr19:53754612-53754662	Caco-2	colon:	n/a
7	chr19:53739025-53739075	GM12891	blood:	n/a
8	chr19:53754612-53754662	ECC-1	luminal epithelium:	n/a
9	chr19:53754612-53754662	NHDF-neo	bronchial:	n/a
10	chr19:53739025-53739075	HUVEC	blood vessel:	n/a
11	chr19:53739025-53739075	PFSK-1	brain:	n/a
12	chr19:53754612-53754662	NB4	blood:	n/a
13	chr19:53739025-53739075	HEEpiC	esophagus:	n/a
14	chr19:53754612-53754662	Hela-S3	cervix:	n/a
15	chr19:53754612-53754662	SK-N-SH	brain:	n/a
16	chr19:53754612-53754662	GM12891	blood:	n/a
17	chr19:53739025-53739075	HL-60	blood:	n/a
18	chr19:53739025-53739075	HMEC	breast:	n/a
19	chr19:53739025-53739075	AG04450	lung:	fetal
20	chr19:53739025-53739075	GM06990	blood:	n/a
21	chr19:53739025-53739075	SAEC	small airway:	n/a
22	chr19:53739025-53739075	GM19239	blood:	n/a
23	chr19:53739025-53739075	HCPEpiC	choroid plexus:	n/a
24	chr19:53739025-53739075	Caco-2	colon:	n/a
25	chr19:53754612-53754662	NHBE	bronchial:	n/a
26	chr19:53739025-53739075	HEK293	kidney:	embryo
27	chr19:53739025-53739075	GM12878	blood:	n/a
28	chr19:53754612-53754662	SKMC	muscle:	n/a
29	chr19:53739025-53739075	HRPEpiC	eye:	n/a
30	chr19:53739025-53739075	PANC-1	pancreas:	n/a
31	chr19:53739025-53739075	HAEpiC	amniotic membrane:	n/a
32	chr19:53754612-53754662	Jurkat	blood:	n/a
33	chr19:53754612-53754662	PANC-1	pancreas:	n/a
34	chr19:53739025-53739075	ECC-1	luminal epithelium:	n/a
35	chr19:53754612-53754662	HIPEpiC	eye:	n/a
36	chr19:53739025-53739075	NHBE	bronchial:	n/a
37	chr19:53739025-53739075	A549	lung:	n/a
38	chr19:53754612-53754662	AG04450	lung:	fetal
39	chr19:53754612-53754662	MCF-7	breast:	n/a
40	chr19:53754612-53754662	A549	lung:	n/a
41	chr19:53754612-53754662	GM12892	blood:	n/a
42	chr19:53739025-53739075	RPTEC	kidney:	n/a
43	chr19:53754612-53754662	PrEC	prostate:	n/a
44	chr19:53739025-53739075	NH-A	brain:	n/a
45	chr19:53754612-53754662	BE2_C	brain:	n/a
46	chr19:53739025-53739075	AG04449	skin:	fetal
47	chr19:53739025-53739075	HCF	heart:	n/a
48	chr19:53754612-53754662	MCF10A-Er-Src	breast:	n/a
49	chr19:53754612-53754662	NH-A	brain:	n/a
50	chr19:53739025-53739075	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53722523..53724411-chr19:53731343..53734094,2	K562	blood:
2	chr19:53756061..53758221-chr19:53835400..53837964,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VN1R2-3	chr19:53745017-53745166	ENSG00000269288.1
2	lnc-VN1R4-2	chr19:53745464-53747264	NONHSAT067656
3	lnc-VN1R2-3	chr19:53743928-53744114	ENSG00000269288.1

No data

Variant related genes	Relation type
ZNF677	TF binding region
ENSG00000269288	TF binding region
NDUFV2P1	TF binding region
ZNF677	CpG island
ENSG00000269288	CpG island
NDUFV2P1	CpG island
ENSG00000213799	chromatin interactions

Extended variants
information (count: 992 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12984150	chr19:53732590-53732591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548684140	chr19:53732598-53732599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138543187	chr19:53732607-53732608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs140247460	chr19:53732611-53732612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs145314566	chr19:53732619-53732620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577091533	chr19:53732664-53732665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187751712	chr19:53732701-53732702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs193113538	chr19:53732704-53732705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185620789	chr19:53732716-53732717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs74256699	chr19:53732796-53732797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140748168	chr19:53732828-53732829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs28687376	chr19:53732867-53732868	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547271648	chr19:53732874-53732875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541415848	chr19:53732948-53732949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560204825	chr19:53732968-53732969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs531764855	chr19:53732981-53732982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs545488257	chr19:53732990-53732991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565162780	chr19:53733017-53733018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs193144292	chr19:53733088-53733089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs4411615	chr19:53733101-53733102	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs184319690	chr19:53733136-53733137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113348644	chr19:53733209-53733210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547578031	chr19:53733233-53733234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111909327	chr19:53733255-53733256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs149603230	chr19:53733272-53733273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374773297	chr19:53733280-53733281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs5828538	chr19:53733300-53733301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538660979	chr19:53733319-53733320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6509738	chr19:53733325-53733326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77047207	chr19:53733326-53733327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs6509739	chr19:53733328-53733329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76308382	chr19:53733340-53733341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76814835	chr19:53733341-53733342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs77246655	chr19:53733342-53733343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113775814	chr19:53733360-53733361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188713184	chr19:53733368-53733369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181094568	chr19:53733384-53733385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556906920	chr19:53733392-53733393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552689020	chr19:53733393-53733394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144362431	chr19:53733416-53733417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs2265532	chr19:53733447-53733448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148374963	chr19:53733472-53733473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2265531	chr19:53733485-53733486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575336191	chr19:53733509-53733510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556427088	chr19:53733512-53733513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs185401382	chr19:53733542-53733543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189328538	chr19:53733543-53733544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141595367	chr19:53733557-53733558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs8109793	chr19:53733576-53733577	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182263713	chr19:53733623-53733624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
2	chr19:53729000-53732600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:53733400-53734600	ZNF genes & repeats	Left Ventricle	heart
4	chr19:53733600-53734800	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr19:53733600-53735200	ZNF genes & repeats	Ovary	ovary
6	chr19:53733600-53736200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:53734200-53735200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:53734200-53735200	ZNF genes & repeats	Aorta	Aorta
11	chr19:53734400-53735000	ZNF genes & repeats	Fetal Lung	lung
12	chr19:53734400-53735400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:53734400-53736600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr19:53734600-53735000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:53735200-53735800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:53735600-53736000	ZNF genes & repeats	Aorta	Aorta
17	chr19:53735600-53736000	ZNF genes & repeats	Ovary	ovary
18	chr19:53735800-53738000	ZNF genes & repeats	Fetal Brain Female	brain
19	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr19:53736200-53749000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:53737400-53737800	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr19:53737400-53737800	ZNF genes & repeats	Pancreas	Pancrea
23	chr19:53737400-53738000	ZNF genes & repeats	Aorta	Aorta
24	chr19:53737400-53738000	ZNF genes & repeats	Fetal Stomach	stomach
25	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:53737600-53738000	ZNF genes & repeats	Fetal Brain Male	brain
27	chr19:53737800-53743000	Weak transcription	Pancreas	Pancrea
28	chr19:53738000-53738800	Weak transcription	Fetal Brain Male	brain
29	chr19:53738000-53743000	Weak transcription	Fetal Stomach	stomach
30	chr19:53738600-53739000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr19:53738600-53740400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:53738600-53749000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:53738800-53739000	ZNF genes & repeats	Fetal Brain Male	brain
34	chr19:53738800-53756600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:53739000-53740400	Weak transcription	Fetal Brain Male	brain
36	chr19:53739000-53742000	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr19:53739400-53743400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr19:53739400-53755200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:53739600-53740600	Weak transcription	Placenta	Placenta
40	chr19:53739600-53748600	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr19:53739600-53748600	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr19:53739600-53756200	ZNF genes & repeats	Fetal Brain Female	brain
43	chr19:53739800-53740400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:53740000-53740800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:53740000-53747200	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr19:53740000-53749800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:53740000-53750600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:53740000-53756400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:53740000-53756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr19:53740000-53756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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