Variant report

Variant	nsv978867
Chromosome Location	chr19:44963452-44982821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:296)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:296 , 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	ARID3A	chr19:44981874-44982087	K562	blood:	n/a	n/a
2	ARID3A	chr19:44981619-44981983	HepG2	liver:	n/a	n/a
3	ATF3	chr19:44980550-44981751	A549	lung:	n/a	n/a
4	ATF3	chr19:44980461-44981688	A549	lung:	n/a	n/a
5	BACH1	chr19:44980328-44980464	K562	blood:	n/a	n/a
6	BACH1	chr19:44980728-44981154	K562	blood:	n/a	n/a
7	BATF	chr19:44963319-44963547	GM12878	blood:	n/a	n/a
8	BATF	chr19:44963064-44963764	GM12878	blood:	n/a	n/a
9	BCL11A	chr19:44963692-44963833	GM12878	blood:	n/a	n/a
10	BCL11A	chr19:44963077-44963629	GM12878	blood:	n/a	chr19:44963315-44963328
11	BCL11A	chr19:44963076-44963596	GM12878	blood:	n/a	chr19:44963315-44963328
12	BCL11A	chr19:44964048-44964242	GM12878	blood:	n/a	n/a
13	BCL3	chr19:44980658-44981221	A549	lung:	n/a	n/a
14	BCL3	chr19:44980685-44981717	A549	lung:	n/a	n/a
15	BCL3	chr19:44977801-44978286	A549	lung:	n/a	n/a
16	BHLHE40	chr19:44963124-44963639	HepG2	liver:	n/a	chr19:44963309-44963325
17	BHLHE40	chr19:44980763-44980782	A549	lung:	n/a	n/a
18	CBX3	chr19:44980334-44981831	K562	blood:	n/a	n/a
19	CBX3	chr19:44980573-44981804	HCT-116	colon:	n/a	n/a
20	CBX3	chr19:44980756-44981745	HCT-116	colon:	n/a	n/a
21	CBX3	chr19:44980549-44981841	K562	blood:	n/a	n/a
22	CEBPB	chr19:44967809-44967832	IMR90	lung:	n/a	chr19:44967815-44967826
23	CEBPB	chr19:44967739-44967836	A549	lung:	n/a	chr19:44967815-44967826
24	CEBPB	chr19:44966908-44967108	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr19:44964120-44964316	K562	blood:	n/a	n/a
26	CEBPB	chr19:44967812-44967839	HepG2	liver:	n/a	chr19:44967815-44967826
27	CHD2	chr19:44964118-44964144	K562	blood:	n/a	n/a
28	CHD2	chr19:44980599-44981230	K562	blood:	n/a	n/a
29	CTCF	chr19:44963228-44963495	K562	blood:	n/a	n/a
30	CTCF	chr19:44974614-44974651	GM10266	blood:	n/a	n/a
31	CTCF	chr19:44965292-44965382	GM13976	blood:	n/a	n/a
32	CTCF	chr19:44963228-44963586	K562	blood:	n/a	chr19:44963577-44963585
33	CTCF	chr19:44965298-44965349	GM20000	blood:	n/a	n/a
34	CTCF	chr19:44963339-44963552	K562	blood:	n/a	n/a
35	EBF1	chr19:44963063-44963609	GM12878	blood:	n/a	n/a
36	EBF1	chr19:44963130-44963503	GM12878	blood:	n/a	n/a
37	ELF1	chr19:44980554-44981689	A549	lung:	n/a	n/a
38	ELF1	chr19:44980678-44981585	A549	lung:	n/a	n/a
39	EP300	chr19:44963334-44963494	GM12878	blood:	n/a	n/a
40	EP300	chr19:44962157-44964205	GM12878	blood:	n/a	n/a
41	EP300	chr19:44980527-44981238	A549	lung:	n/a	n/a
42	EP300	chr19:44980561-44981742	A549	lung:	n/a	n/a
43	ETS1	chr19:44980694-44981141	K562	blood:	n/a	n/a
44	ETS1	chr19:44980452-44981804	A549	lung:	n/a	n/a
45	ETS1	chr19:44981359-44981667	K562	blood:	n/a	n/a
46	ETS1	chr19:44980995-44981639	GM12878	blood:	n/a	n/a
47	ETS1	chr19:44980591-44981156	GM12878	blood:	n/a	n/a
48	ETS1	chr19:44980687-44981697	K562	blood:	n/a	n/a
49	ETS1	chr19:44980637-44981126	A549	lung:	n/a	n/a
50	FOSL2	chr19:44960145-44963971	HepG2	liver:	n/a	chr19:44963944-44963956 chr19:44963428-44963439 chr19:44963190-44963199

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44969208..44972041-chr19:44979244..44981448,2	K562	blood:
2	chr19:44765918..44767537-chr19:44979922..44981810,2	MCF-7	breast:
3	chr19:44969208..44972041-chr19:44979244..44981448,2	K562	blood:
4	chr19:44763163..44765702-chr19:44978103..44979674,2	MCF-7	breast:
5	chr19:44967312..44967831-chr5:149821872..149822600,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF180-4	chr19:44978645-44979403	ENSG00000267242.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF180	hsa-miR-93-5p	chr19:44980352-44980374

Variant related genes	Relation type
ZNF285B	TF binding region
ENSG00000267242	TF binding region
ENSG00000159915	chromatin interactions
ENSG00000267242	chromatin interactions
ENSG00000176761	chromatin interactions

Extended variants
information (count: 864 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:864 , 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	rs559038522	chr19:44963454-44963455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs572474329	chr19:44963457-44963458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs80034273	chr19:44963461-44963462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541025793	chr19:44963462-44963463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561456950	chr19:44963466-44963467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200592865	chr19:44963474-44963475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146756830	chr19:44963495-44963496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201324124	chr19:44963501-44963502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542842495	chr19:44963503-44963504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187775496	chr19:44963524-44963525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112002776	chr19:44963532-44963533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200291798	chr19:44963540-44963541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201461561	chr19:44963549-44963550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531548644	chr19:44963553-44963554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs551268739	chr19:44963579-44963580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184510686	chr19:44963580-44963581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571169916	chr19:44963587-44963588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369724413	chr19:44963603-44963604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527294267	chr19:44963621-44963622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188985475	chr19:44963656-44963657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75513935	chr19:44963677-44963678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199669176	chr19:44963686-44963687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113480382	chr19:44963695-44963696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551856988	chr19:44963697-44963698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111297508	chr19:44963698-44963699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185418233	chr19:44963707-44963708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372846149	chr19:44963719-44963720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530847054	chr19:44963733-44963734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75874949	chr19:44963766-44963767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79709966	chr19:44963772-44963773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200880873	chr19:44963777-44963778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201553898	chr19:44963782-44963783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142832343	chr19:44963801-44963802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76241868	chr19:44963802-44963803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs141005413	chr19:44963831-44963832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191235289	chr19:44963833-44963834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570258180	chr19:44963841-44963842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539188713	chr19:44963844-44963845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4277439	chr19:44963848-44963849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139208351	chr19:44963852-44963853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377639400	chr19:44963856-44963857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572749993	chr19:44963891-44963892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200738437	chr19:44963897-44963898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs202190742	chr19:44963901-44963902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs10423283	chr19:44963916-44963917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10422909	chr19:44963925-44963926	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574918049	chr19:44963926-44963927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113391279	chr19:44963931-44963932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371221753	chr19:44963964-44963965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553740419	chr19:44963969-44963970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44961000-44964400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:44966800-44992400	ZNF genes & repeats	Liver	Liver
3	chr19:44967000-44967800	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr19:44967200-44992800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:44968000-44970400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:44968000-44971800	ZNF genes & repeats	Brain Anterior Caudate	brain
7	chr19:44969600-44969800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:44969800-44992200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:44971600-44992200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:44972000-44972400	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr19:44972200-44974600	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr19:44972400-44977600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:44972600-44992200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr19:44974200-44975000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:44974600-44975000	ZNF genes & repeats	Ovary	ovary
16	chr19:44974600-44975400	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:44975200-44992200	ZNF genes & repeats	Fetal Brain Female	brain
18	chr19:44975400-44992200	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr19:44975600-44990000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:44975600-44992200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr19:44975800-44992200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
22	chr19:44975800-44992200	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr19:44976000-44992400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:44976400-44992000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:44976400-44992000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
26	chr19:44976600-44992000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr19:44976600-44992200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:44976600-44992200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
29	chr19:44976600-44992400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
30	chr19:44977000-44989800	ZNF genes & repeats	Brain Angular Gyrus	brain
31	chr19:44977000-44990200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr19:44977000-44992000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:44977000-44992200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
34	chr19:44977000-44992200	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:44977000-44992400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr19:44977000-44992400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr19:44977200-44978400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:44977200-44979200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:44977200-44979800	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr19:44977200-44987600	ZNF genes & repeats	Left Ventricle	heart
41	chr19:44977200-44991800	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr19:44977200-44992000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr19:44977200-44992000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
44	chr19:44977200-44992200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr19:44977200-44992800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:44977400-44979200	ZNF genes & repeats	Gastric	stomach
47	chr19:44977400-44979600	ZNF genes & repeats	Aorta	Aorta
48	chr19:44977400-44979600	ZNF genes & repeats	Pancreas	Pancrea
49	chr19:44977400-44987600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:44977400-44989600	ZNF genes & repeats	Right Ventricle	heart

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