Variant report

Variant	nsv1064604
Chromosome Location	chr19:53730688-53751243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:53742347-53742580	HepG2	liver:	n/a	chr19:53742417-53742428 chr19:53742415-53742426 chr19:53742415-53742428 chr19:53742415-53742428
2	CEBPB	chr19:53742348-53742552	IMR90	lung:	n/a	chr19:53742417-53742428 chr19:53742415-53742426 chr19:53742415-53742428 chr19:53742415-53742428
3	CTCF	chr19:53749780-53749930	HepG2	liver:	n/a	n/a
4	CTCF	chr19:53749784-53749840	GM13976	blood:	n/a	n/a
5	EP300	chr19:53749811-53750078	GM12878	blood:	n/a	n/a
6	GATA3	chr19:53740363-53741021	A549	lung:	n/a	n/a
7	KAP1	chr19:53740363-53741172	HEK293	kidney:	n/a	n/a
8	KAP1	chr19:53740130-53741020	K562	blood:	n/a	n/a
9	MAFF	chr19:53748602-53748832	HepG2	liver:	n/a	n/a
10	MAFK	chr19:53737612-53737857	HepG2	liver:	n/a	n/a
11	MAFK	chr19:53748605-53748879	HepG2	liver:	n/a	n/a
12	MAFK	chr19:53730614-53730759	HepG2	liver:	n/a	chr19:53730644-53730659
13	MAFK	chr19:53730537-53730745	HepG2	liver:	n/a	chr19:53730644-53730659
14	MAFK	chr19:53748570-53748886	HepG2	liver:	n/a	n/a
15	MAFK	chr19:53748603-53748868	IMR90	lung:	n/a	n/a
16	POLR2A	chr19:53747471-53747521	A549	lung:	n/a	n/a
17	POLR2A	chr19:53747537-53747552	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	POLR2A	chr19:53735915-53735934	MCF10A-Er-Src	breast:	n/a	n/a
21	SETDB1	chr19:53740016-53741228	U2OS	brain:	n/a	n/a
22	SETDB1	chr19:53740044-53741079	K562	blood:	n/a	n/a
23	SPI1	chr19:53749728-53750166	GM12891	blood:	n/a	n/a
24	SPI1	chr19:53749527-53750235	GM12878	blood:	n/a	n/a
25	SPI1	chr19:53749773-53750042	GM12878	blood:	n/a	n/a
26	SPI1	chr19:53749786-53750033	GM12878	blood:	n/a	n/a
27	SPI1	chr19:53749726-53750094	GM12891	blood:	n/a	n/a
28	ZNF143	chr19:53740406-53740920	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF143	chr19:53740585-53740591	GM12878	blood:	n/a	n/a
30	ZNF274	chr19:53740315-53741226	GM12878	blood:	n/a	n/a
31	ZNF274	chr19:53739663-53741983	K562	blood:	n/a	n/a
32	ZNF274	chr19:53739762-53741340	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF274	chr19:53740330-53741105	K562	blood:	n/a	n/a
34	ZNF274	chr19:53739976-53741291	NT2-D1	testis:	n/a	n/a
35	ZNF274	chr19:53740273-53740977	HepG2	liver:	n/a	n/a
36	ZNF274	chr19:53740326-53741278	GM08714	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53739025-53739075	MCF10A-Er-Src	breast:	n/a
2	chr19:53739025-53739075	HL-60	blood:	n/a
3	chr19:53739025-53739075	LNCaP	prostate:	n/a
4	chr19:53739025-53739075	NB4	blood:	n/a
5	chr19:53739025-53739075	AG10803	skin:	n/a
6	chr19:53739025-53739075	ovcar-3	ovarian:	n/a
7	chr19:53739025-53739075	NH-A	brain:	n/a
8	chr19:53739025-53739075	HCF	heart:	n/a
9	chr19:53739025-53739075	HMEC	breast:	n/a
10	chr19:53739025-53739075	HUVEC	blood vessel:	n/a
11	chr19:53739025-53739075	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:53739025-53739075	GM12892	blood:	n/a
13	chr19:53739025-53739075	K562	blood:	n/a
14	chr19:53739025-53739075	NHBE	bronchial:	n/a
15	chr19:53739025-53739075	CMK	blood:	n/a
16	chr19:53739025-53739075	H1-hESC	embryonic stem cell:	embryo
17	chr19:53739025-53739075	GM19239	blood:	n/a
18	chr19:53739025-53739075	SAEC	small airway:	n/a
19	chr19:53739025-53739075	HAEpiC	amniotic membrane:	n/a
20	chr19:53739025-53739075	IMR90	lung:	fetal
21	chr19:53739025-53739075	PFSK-1	brain:	n/a
22	chr19:53739025-53739075	NT2-D1	testis:	n/a
23	chr19:53739025-53739075	HRCEpiC	kidney:	n/a
24	chr19:53739025-53739075	HEK293	kidney:	embryo
25	chr19:53739025-53739075	HepG2	liver:	n/a
26	chr19:53739025-53739075	GM12878	blood:	n/a
27	chr19:53739025-53739075	HNPCEpiC	eye:	n/a
28	chr19:53739025-53739075	BJ	skin:	n/a
29	chr19:53739025-53739075	HCPEpiC	choroid plexus:	n/a
30	chr19:53739025-53739075	Jurkat	blood:	n/a
31	chr19:53739025-53739075	U87	brain:	n/a
32	chr19:53739025-53739075	Caco-2	colon:	n/a
33	chr19:53739025-53739075	MCF-7	breast:	n/a
34	chr19:53739025-53739075	HCT-116	colon:	n/a
35	chr19:53739025-53739075	AoSMC	blood vessel:	n/a
36	chr19:53739025-53739075	Hepatocyte	liver:	n/a
37	chr19:53739025-53739075	AG04449	skin:	fetal
38	chr19:53739025-53739075	SKMC	muscle:	n/a
39	chr19:53739025-53739075	HEEpiC	esophagus:	n/a
40	chr19:53739025-53739075	T-47D	breast:	n/a
41	chr19:53739025-53739075	ProgFib	skin:	n/a
42	chr19:53739025-53739075	PANC-1	pancreas:	n/a
43	chr19:53739025-53739075	GM12891	blood:	n/a
44	chr19:53739025-53739075	AG09319	gingival:	n/a
45	chr19:53739025-53739075	HRPEpiC	eye:	n/a
46	chr19:53739025-53739075	HIPEpiC	eye:	n/a
47	chr19:53739025-53739075	HCM	heart:	n/a
48	chr19:53739025-53739075	BE2_C	brain:	n/a
49	chr19:53739025-53739075	SK-N-SH	brain:	n/a
50	chr19:53739025-53739075	ECC-1	luminal epithelium:	n/a

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

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

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

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

Extended variants
information (count: 862 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:862 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542762854	chr19:53730710-53730711	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369766385	chr19:53730746-53730747	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528423697	chr19:53730760-53730761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374183490	chr19:53730766-53730767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540529388	chr19:53730768-53730769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553965653	chr19:53730792-53730793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147698999	chr19:53730807-53730808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550711093	chr19:53730862-53730863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377622975	chr19:53730867-53730868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568905615	chr19:53730871-53730872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531022267	chr19:53730882-53730883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370724233	chr19:53730941-53730942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77372990	chr19:53731009-53731010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567757121	chr19:53731061-53731062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557015679	chr19:53731073-53731074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141297677	chr19:53731092-53731093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553237719	chr19:53731113-53731114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs571325077	chr19:53731127-53731128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538622245	chr19:53731142-53731143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76113127	chr19:53731144-53731145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575650620	chr19:53731176-53731177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10404561	chr19:53731190-53731191	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370560892	chr19:53731262-53731263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555886139	chr19:53731305-53731306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79638935	chr19:53731330-53731331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142621663	chr19:53731352-53731353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186836833	chr19:53731393-53731394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs10403807	chr19:53731394-53731395	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12327579	chr19:53731397-53731398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532165730	chr19:53731473-53731474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs10404048	chr19:53731490-53731491	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs562334720	chr19:53731515-53731516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112488144	chr19:53731522-53731523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541368887	chr19:53731529-53731530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564774555	chr19:53731530-53731531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116429263	chr19:53731537-53731538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150996967	chr19:53731566-53731567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567885280	chr19:53731574-53731575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs572393513	chr19:53731583-53731584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528630253	chr19:53731619-53731620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191788613	chr19:53731627-53731628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs532122849	chr19:53731629-53731630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs117374108	chr19:53731636-53731637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs557363819	chr19:53731643-53731644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182640350	chr19:53731745-53731746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4803071	chr19:53731754-53731755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs140906068	chr19:53731761-53731762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573088694	chr19:53731779-53731780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs540399966	chr19:53731796-53731797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186963525	chr19:53731812-53731813	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53727000-53731800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
3	chr19:53729000-53732600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:53731800-53732400	ZNF genes & repeats	Aorta	Aorta
5	chr19:53731800-53732400	ZNF genes & repeats	Right Ventricle	heart
6	chr19:53733400-53734600	ZNF genes & repeats	Left Ventricle	heart
7	chr19:53733600-53734800	ZNF genes & repeats	Brain Hippocampus Middle	brain
8	chr19:53733600-53735200	ZNF genes & repeats	Ovary	ovary
9	chr19:53733600-53736200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:53734200-53735200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:53734200-53735200	ZNF genes & repeats	Aorta	Aorta
14	chr19:53734400-53735000	ZNF genes & repeats	Fetal Lung	lung
15	chr19:53734400-53735400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:53734400-53736600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:53734600-53735000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:53735200-53735800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53735600-53736000	ZNF genes & repeats	Aorta	Aorta
20	chr19:53735600-53736000	ZNF genes & repeats	Ovary	ovary
21	chr19:53735800-53738000	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:53736200-53749000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:53737400-53737800	ZNF genes & repeats	Brain Anterior Caudate	brain
25	chr19:53737400-53737800	ZNF genes & repeats	Pancreas	Pancrea
26	chr19:53737400-53738000	ZNF genes & repeats	Aorta	Aorta
27	chr19:53737400-53738000	ZNF genes & repeats	Fetal Stomach	stomach
28	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:53737600-53738000	ZNF genes & repeats	Fetal Brain Male	brain
30	chr19:53737800-53743000	Weak transcription	Pancreas	Pancrea
31	chr19:53738000-53738800	Weak transcription	Fetal Brain Male	brain
32	chr19:53738000-53743000	Weak transcription	Fetal Stomach	stomach
33	chr19:53738600-53739000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
34	chr19:53738600-53740400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:53738600-53749000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:53738800-53739000	ZNF genes & repeats	Fetal Brain Male	brain
37	chr19:53738800-53756600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr19:53739000-53740400	Weak transcription	Fetal Brain Male	brain
39	chr19:53739000-53742000	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr19:53739400-53743400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr19:53739400-53755200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:53739600-53740600	Weak transcription	Placenta	Placenta
43	chr19:53739600-53748600	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr19:53739600-53748600	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr19:53739600-53756200	ZNF genes & repeats	Fetal Brain Female	brain
46	chr19:53739800-53740400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:53740000-53740800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:53740000-53747200	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr19:53740000-53749800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:53740000-53750600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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