Variant report

Variant	nsv960889
Chromosome Location	chr19:44877441-44913480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:300)
CpG islands
(count:672)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:44905595-44905930	K562	blood:	n/a	n/a
2	BATF	chr19:44913406-44913874	GM12878	blood:	n/a	n/a
3	BATF	chr19:44913233-44913633	GM12878	blood:	n/a	n/a
4	BCL11A	chr19:44913357-44913876	GM12878	blood:	n/a	chr19:44913660-44913673
5	BCL11A	chr19:44913354-44913935	GM12878	blood:	n/a	chr19:44913660-44913673
6	BHLHE40	chr19:44913314-44913847	HepG2	liver:	n/a	chr19:44913663-44913679
7	CBX3	chr19:44905338-44906053	K562	blood:	n/a	n/a
8	CEBPB	chr19:44893516-44893710	IMR90	lung:	n/a	n/a
9	CEBPB	chr19:44908195-44908390	A549	lung:	n/a	chr19:44908251-44908262
10	CEBPB	chr19:44908208-44908361	HepG2	liver:	n/a	chr19:44908251-44908262
11	CEBPB	chr19:44897817-44897851	IMR90	lung:	n/a	n/a
12	CEBPB	chr19:44905603-44905974	K562	blood:	n/a	n/a
13	CHD2	chr19:44905776-44905808	GM12878	blood:	n/a	n/a
14	CREB1	chr19:44905562-44905951	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr19:44905355-44905913	A549	lung:	n/a	n/a
16	CREB1	chr19:44905600-44905930	K562	blood:	n/a	n/a
17	CREB1	chr19:44905603-44905906	A549	lung:	n/a	n/a
18	CTCF	chr19:44913420-44913543	HepG2	liver:	n/a	n/a
19	CTCF	chr19:44913361-44913723	K562	blood:	n/a	chr19:44913403-44913411
20	CTCF	chr19:44905240-44905390	HFF	foreskin:	n/a	n/a
21	CTCF	chr19:44905700-44905850	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr19:44888300-44888365	GM10248	blood:	n/a	n/a
23	CTCF	chr19:44913458-44913564	LNCaP	prostate:	n/a	n/a
24	CTCF	chr19:44893900-44893956	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr19:44905660-44905668	MCF-7	breast:	n/a	n/a
26	CTCF	chr19:44889280-44889430	Caco-2	colon:	n/a	n/a
27	CTCF	chr19:44913239-44913838	K562	blood:	n/a	chr19:44913403-44913411
28	CTCF	chr19:44913459-44913548	LNCaP	prostate:	n/a	n/a
29	CTCF	chr19:44913346-44913630	A549	lung:	n/a	chr19:44913403-44913411
30	CTCF	chr19:44893363-44893485	LNCaP	prostate:	n/a	n/a
31	CTCF	chr19:44902535-44902553	GM10266	blood:	n/a	n/a
32	CTCF	chr19:44903271-44903317	LNCaP	prostate:	n/a	n/a
33	CTCF	chr19:44905654-44905759	Fibrobl	skin:	n/a	n/a
34	CTCF	chr19:44905702-44905735	MCF-7	breast:	n/a	n/a
35	CTCF	chr19:44905280-44905430	HMEC	breast:	n/a	n/a
36	CTCF	chr19:44913339-44913685	K562	blood:	n/a	chr19:44913403-44913411
37	CTCF	chr19:44905691-44905693	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:44905739-44905847	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr19:44905600-44905750	AG10803	skin:	n/a	n/a
40	CTCF	chr19:44911856-44911941	HepG2	liver:	n/a	n/a
41	CTCF	chr19:44904216-44904225	ProgFib	skin:	n/a	n/a
42	CTCF	chr19:44905689-44905733	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr19:44913438-44913526	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:44913443-44913495	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr19:44905650-44905723	Medullo	brain:	n/a	n/a
46	CTCF	chr19:44905460-44905610	AG04449	skin:	n/a	n/a
47	CTCF	chr19:44913464-44913528	Medullo	brain:	n/a	n/a
48	CTCF	chr19:44913438-44913525	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:44883592-44883667	ProgFib	skin:	n/a	n/a
50	CTCF	chr19:44913429-44913634	Gliobla	brain:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44905980-44906030	HRPEpiC	eye:	n/a
2	chr19:44905980-44906030	HRPEpiC	eye:	n/a
3	chr19:44905788-44905838	LNCaP	prostate:	n/a
4	chr19:44905782-44905832	SK-N-MC	brain:	n/a
5	chr19:44905882-44905932	H1-hESC	embryonic stem cell:	embryo
6	chr19:44905980-44906030	Hepatocyte	liver:	n/a
7	chr19:44906522-44906572	HAEpiC	amniotic membrane:	n/a
8	chr19:44905782-44905832	Hepatocyte	liver:	n/a
9	chr19:44905882-44905932	CMK	blood:	n/a
10	chr19:44905980-44906030	AG10803	skin:	n/a
11	chr19:44906522-44906572	NT2-D1	testis:	n/a
12	chr19:44905343-44905393	A549	lung:	n/a
13	chr19:44905830-44905880	SAEC	small airway:	n/a
14	chr19:44906522-44906572	HIPEpiC	eye:	n/a
15	chr19:44891400-44891450	NB4	blood:	n/a
16	chr19:44905980-44906030	PANC-1	pancreas:	n/a
17	chr19:44905828-44905878	U87	brain:	n/a
18	chr19:44905830-44905880	HUVEC	blood vessel:	n/a
19	chr19:44906522-44906572	HL-60	blood:	n/a
20	chr19:44905980-44906030	HEEpiC	esophagus:	n/a
21	chr19:44905980-44906030	NHBE	bronchial:	n/a
22	chr19:44905882-44905932	NH-A	brain:	n/a
23	chr19:44905788-44905838	PrEC	prostate:	n/a
24	chr19:44905343-44905393	HRPEpiC	eye:	n/a
25	chr19:44905828-44905878	NB4	blood:	n/a
26	chr19:44890183-44890233	U87	brain:	n/a
27	chr19:44905788-44905838	NH-A	brain:	n/a
28	chr19:44905916-44905966	LNCaP	prostate:	n/a
29	chr19:44905980-44906030	NH-A	brain:	n/a
30	chr19:44905782-44905832	HCT-116	colon:	n/a
31	chr19:44890183-44890233	HRCEpiC	kidney:	n/a
32	chr19:44905830-44905880	SKMC	muscle:	n/a
33	chr19:44905782-44905832	U87	brain:	n/a
34	chr19:44905882-44905932	NHBE	bronchial:	n/a
35	chr19:44905782-44905832	PANC-1	pancreas:	n/a
36	chr19:44906522-44906572	ECC-1	luminal epithelium:	n/a
37	chr19:44905882-44905932	MCF10A-Er-Src	breast:	n/a
38	chr19:44905782-44905832	LNCaP	prostate:	n/a
39	chr19:44906522-44906572	AG09309	skin:	n/a
40	chr19:44905882-44905932	HAEpiC	amniotic membrane:	n/a
41	chr19:44905916-44905966	AG04450	lung:	fetal
42	chr19:44905830-44905880	RPTEC	kidney:	n/a
43	chr19:44905828-44905878	AG09319	gingival:	n/a
44	chr19:44905782-44905832	HEEpiC	esophagus:	n/a
45	chr19:44905782-44905832	NHBE	bronchial:	n/a
46	chr19:44890183-44890233	HUVEC	blood vessel:	n/a
47	chr19:44905916-44905966	GM06990	blood:	n/a
48	chr19:44891400-44891450	GM12891	blood:	n/a
49	chr19:44905782-44905832	Hela-S3	cervix:	n/a
50	chr19:44890183-44890233	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44895650..44897507-chr2:133068550..133071124,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF229-1	chr19:44896603-44896630	ENSG00000267188.1
2	lnc-ZNF229-1	chr19:44901364-44901421	ENSG00000267188.1
3	lnc-ZNF229-1	chr19:44900827-44901421	NONHSAT066696
4	lnc-ZNF229-1	chr19:44905734-44905767	NONHSAT066696

No data

Variant related genes	Relation type
ENSG00000267173	TF binding region
ZNF285	TF binding region
ENSG00000267173	CpG island
ZNF285	CpG island

Extended variants
information (count: 1486 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1486 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548242671	chr19:44885011-44885012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143891441	chr19:44885014-44885015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537265400	chr19:44885019-44885020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377094611	chr19:44885041-44885042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550736669	chr19:44885094-44885095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs56951230	chr19:44885104-44885105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539705731	chr19:44885119-44885120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs117466373	chr19:44885128-44885129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573187336	chr19:44885139-44885140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs8113123	chr19:44885144-44885145	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141584155	chr19:44885157-44885158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185353191	chr19:44885159-44885160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555845767	chr19:44885161-44885162	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs60449045	chr19:44885163-44885164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575621017	chr19:44885167-44885168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78824170	chr19:44885175-44885176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79021295	chr19:44885183-44885184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189007461	chr19:44885199-44885200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs563431915	chr19:44885203-44885204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529197236	chr19:44885332-44885333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4100271	chr19:44885386-44885387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546115195	chr19:44885393-44885394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559111606	chr19:44885445-44885446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569039966	chr19:44885446-44885447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528071801	chr19:44885459-44885460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547845209	chr19:44885464-44885465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146171156	chr19:44885487-44885488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113112836	chr19:44885521-44885522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112824195	chr19:44885530-44885531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112153754	chr19:44885539-44885540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369103823	chr19:44885545-44885546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368600837	chr19:44885569-44885570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561528844	chr19:44885582-44885583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192631512	chr19:44885632-44885633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183546371	chr19:44885640-44885641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144027738	chr19:44885690-44885691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375633501	chr19:44885717-44885718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547249988	chr19:44885720-44885721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567018812	chr19:44885721-44885722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188031519	chr19:44885733-44885734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146381428	chr19:44885760-44885761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148647687	chr19:44885775-44885776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372331097	chr19:44885802-44885803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199696515	chr19:44885851-44885852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139696735	chr19:44885870-44885871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148431719	chr19:44885910-44885911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199498586	chr19:44885915-44885916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7351058	chr19:44885923-44885924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141387027	chr19:44885930-44885931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73934835	chr19:44885938-44885939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44885000-44885200	ZNF genes & repeats	Left Ventricle	heart
2	chr19:44885200-44889800	Weak transcription	Left Ventricle	heart
3	chr19:44886400-44890400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr19:44887000-44889200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:44887400-44889600	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:44887400-44889600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:44887800-44890200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:44888000-44889600	Weak transcription	Fetal Brain Female	brain
9	chr19:44888200-44889800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:44888200-44889800	Weak transcription	Brain Germinal Matrix	brain
11	chr19:44888200-44893800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
13	chr19:44888400-44890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:44888400-44890000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:44888400-44890400	Weak transcription	Brain Anterior Caudate	brain
16	chr19:44888400-44891000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr19:44888600-44890400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:44888600-44893800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:44888800-44889200	ZNF genes & repeats	Pancreas	Pancrea
20	chr19:44888800-44890400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:44889000-44889600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:44889000-44890400	Weak transcription	Brain Substantia Nigra	brain
23	chr19:44889000-44893800	Weak transcription	Fetal Intestine Large	intestine
24	chr19:44889000-44894000	Weak transcription	Fetal Stomach	stomach
25	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
26	chr19:44889200-44889800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:44889200-44890000	Weak transcription	Fetal Lung	lung
28	chr19:44889200-44890400	Weak transcription	Pancreas	Pancrea
29	chr19:44889200-44890800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:44889200-44893000	Weak transcription	Fetal Heart	heart
31	chr19:44889200-44896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:44889400-44892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:44889600-44890000	Weak transcription	Fetal Muscle Leg	muscle
34	chr19:44889600-44890800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr19:44889600-44892400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:44889600-44892600	Strong transcription	Brain Hippocampus Middle	brain
37	chr19:44889600-44892600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr19:44889600-44896800	Strong transcription	Fetal Brain Female	brain
39	chr19:44889600-44897600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr19:44889600-44899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:44889800-44890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:44889800-44890400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:44889800-44890600	ZNF genes & repeats	Left Ventricle	heart
44	chr19:44889800-44891000	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:44889800-44892400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:44889800-44892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:44889800-44893000	Strong transcription	Brain Germinal Matrix	brain
48	chr19:44889800-44893600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
49	chr19:44889800-44894600	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr19:44889800-44897800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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