Variant report

Variant	nsv912115
Chromosome Location	chr19:44957508-44995990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:746)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:44959425-44959428	K562	blood:	n/a	n/a
2	ARID3A	chr19:44961266-44961467	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:44981619-44981983	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:44981874-44982087	K562	blood:	n/a	n/a
5	ARID3A	chr19:44959543-44959576	HepG2	liver:	n/a	n/a
6	ATF1	chr19:44959544-44959572	K562	blood:	n/a	n/a
7	ATF3	chr19:44980550-44981751	A549	lung:	n/a	n/a
8	ATF3	chr19:44980461-44981688	A549	lung:	n/a	n/a
9	BACH1	chr19:44980328-44980464	K562	blood:	n/a	n/a
10	BACH1	chr19:44980728-44981154	K562	blood:	n/a	n/a
11	BATF	chr19:44963319-44963547	GM12878	blood:	n/a	n/a
12	BATF	chr19:44963064-44963764	GM12878	blood:	n/a	n/a
13	BATF	chr19:44961839-44962104	GM12878	blood:	n/a	n/a
14	BATF	chr19:44961864-44962043	GM12878	blood:	n/a	n/a
15	BATF	chr19:44959051-44959273	GM12878	blood:	n/a	n/a
16	BATF	chr19:44962163-44962380	GM12878	blood:	n/a	n/a
17	BATF	chr19:44961157-44961637	GM12878	blood:	n/a	n/a
18	BATF	chr19:44960738-44961057	GM12878	blood:	n/a	n/a
19	BATF	chr19:44960944-44961098	GM12878	blood:	n/a	n/a
20	BATF	chr19:44962217-44962393	GM12878	blood:	n/a	n/a
21	BATF	chr19:44963063-44963315	GM12878	blood:	n/a	n/a
22	BATF	chr19:44961149-44961642	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:44962224-44962390	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:44959066-44959290	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:44959113-44959269	GM12878	blood:	n/a	n/a
26	BCL11A	chr19:44962206-44962387	GM12878	blood:	n/a	n/a
27	BCL11A	chr19:44964048-44964242	GM12878	blood:	n/a	n/a
28	BCL11A	chr19:44961151-44961643	GM12878	blood:	n/a	n/a
29	BCL11A	chr19:44960252-44960527	GM12878	blood:	n/a	n/a
30	BCL11A	chr19:44960582-44961099	GM12878	blood:	n/a	n/a
31	BCL11A	chr19:44963692-44963833	GM12878	blood:	n/a	n/a
32	BCL11A	chr19:44961796-44962109	GM12878	blood:	n/a	n/a
33	BCL11A	chr19:44961794-44962137	GM12878	blood:	n/a	n/a
34	BCL11A	chr19:44961169-44961655	GM12878	blood:	n/a	n/a
35	BCL11A	chr19:44963077-44963629	GM12878	blood:	n/a	chr19:44963315-44963328
36	BCL11A	chr19:44963076-44963596	GM12878	blood:	n/a	chr19:44963315-44963328
37	BCL11A	chr19:44962480-44962696	GM12878	blood:	n/a	n/a
38	BCL3	chr19:44980658-44981221	A549	lung:	n/a	n/a
39	BCL3	chr19:44977801-44978286	A549	lung:	n/a	n/a
40	BCL3	chr19:44980685-44981717	A549	lung:	n/a	n/a
41	BHLHE40	chr19:44959039-44959284	HepG2	liver:	n/a	n/a
42	BHLHE40	chr19:44963124-44963639	HepG2	liver:	n/a	chr19:44963309-44963325
43	BHLHE40	chr19:44980763-44980782	A549	lung:	n/a	n/a
44	BHLHE40	chr19:44960738-44961096	HepG2	liver:	n/a	n/a
45	BHLHE40	chr19:44961214-44961572	HepG2	liver:	n/a	n/a
46	CBX3	chr19:44980549-44981841	K562	blood:	n/a	n/a
47	CBX3	chr19:44980334-44981831	K562	blood:	n/a	n/a
48	CBX3	chr19:44980756-44981745	HCT-116	colon:	n/a	n/a
49	CBX3	chr19:44980573-44981804	HCT-116	colon:	n/a	n/a
50	CEBPB	chr19:44967809-44967832	IMR90	lung:	n/a	chr19:44967815-44967826

No data

(count:9 , 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	chr19:44983712..44985391-chr19:44995000..44997386,2	K562	blood:
4	chr19:44967312..44967831-chr5:149821872..149822600,2	HCT-116	colon:
5	chr19:44953043..44955061-chr19:44987589..44989582,2	MCF-7	breast:
6	chr19:44969208..44972041-chr19:44979244..44981448,2	K562	blood:
7	chr19:44763163..44765702-chr19:44978103..44979674,2	MCF-7	breast:
8	chr19:44983712..44985391-chr19:44995000..44997386,2	K562	blood:
9	chr19:44993270..44996512-chr19:44998152..45001010,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF180-3	chr19:44988572-44988646	NONHSAT066700
2	lnc-ZNF180-4	chr19:44978645-44979403	ENSG00000267242.1
3	lnc-ZNF180-3	chr19:44983627-44983696	NONHSAT066700

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
ENSG00000267188	TF binding region
ZNF229	TF binding region
ENSG00000159915	chromatin interactions
ENSG00000267242	chromatin interactions
ENSG00000176761	chromatin interactions

Extended variants
information (count: 2090 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2090 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs204531	chr19:44957508-44957509	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374996214	chr19:44957522-44957523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557161929	chr19:44957540-44957541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373427407	chr19:44957541-44957542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs204530	chr19:44957543-44957544	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149119504	chr19:44957656-44957657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143197543	chr19:44957662-44957663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573138832	chr19:44957667-44957668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs193129118	chr19:44957676-44957677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200822190	chr19:44957692-44957693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34070274	chr19:44957724-44957725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72500251	chr19:44957725-44957726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185784917	chr19:44957742-44957743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188027387	chr19:44957787-44957788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2571157	chr19:44957789-44957790	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs199931248	chr19:44957799-44957800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141966665	chr19:44957808-44957809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533363762	chr19:44957814-44957815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200882508	chr19:44957823-44957824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201542969	chr19:44957829-44957830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62116304	chr19:44957853-44957854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200174975	chr19:44957862-44957863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191324767	chr19:44957878-44957879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141939770	chr19:44957879-44957880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs199980114	chr19:44957885-44957886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs56106841	chr19:44957896-44957897	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs204529	chr19:44957908-44957909	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs200456195	chr19:44957920-44957921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs66834579	chr19:44957932-44957933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201169410	chr19:44957964-44957965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs193186773	chr19:44957968-44957969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544940979	chr19:44957972-44957973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs202181146	chr19:44958004-44958005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs538383131	chr19:44958011-44958012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201472891	chr19:44958012-44958013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs443111	chr19:44958016-44958017	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185072835	chr19:44958023-44958024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111451234	chr19:44958027-44958028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553175231	chr19:44958039-44958040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs573202097	chr19:44958041-44958042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs376049397	chr19:44958053-44958054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs542126127	chr19:44958079-44958080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529683820	chr19:44958095-44958096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199700578	chr19:44958100-44958101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140253247	chr19:44958126-44958127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144253100	chr19:44958133-44958134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544146460	chr19:44958163-44958164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181480012	chr19:44958166-44958167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147796239	chr19:44958178-44958179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs117651900	chr19:44958191-44958192	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:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
2	chr19:44955200-44959800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44959000-44959400	Weak transcription	Stomach Mucosa	stomach
4	chr19:44959000-44960000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44959400-44959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr19:44959400-44959800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:44959400-44959800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:44959400-44959800	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:44959400-44959800	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr19:44959400-44959800	ZNF genes & repeats	Stomach Mucosa	stomach
11	chr19:44959800-44961000	Weak transcription	Adipose Nuclei	Adipose
12	chr19:44959800-44961000	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:44959800-44961200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:44959800-44961200	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:44959800-44961200	Weak transcription	Stomach Mucosa	stomach
16	chr19:44960000-44961000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:44960800-44962000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr19:44961000-44961600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr19:44961000-44961600	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr19:44961000-44961800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:44961000-44961800	ZNF genes & repeats	Spleen	Spleen
22	chr19:44961000-44962000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr19:44961000-44962000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr19:44961000-44962200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:44961000-44963200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:44961000-44964400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr19:44961200-44961400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:44961200-44961400	ZNF genes & repeats	Pancreas	Pancrea
29	chr19:44961200-44961400	Active TSS	NHLF	lung
30	chr19:44961200-44961600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:44961200-44961600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:44961200-44961600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr19:44961200-44961600	ZNF genes & repeats	Liver	Liver
34	chr19:44961200-44961600	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:44961200-44961600	ZNF genes & repeats	Gastric	stomach
36	chr19:44961200-44961600	ZNF genes & repeats	Stomach Mucosa	stomach
37	chr19:44961200-44961600	ZNF genes & repeats	K562	blood
38	chr19:44961200-44961800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:44961200-44961800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:44961400-44961600	ZNF genes & repeats	Right Atrium	heart
41	chr19:44961400-44961600	ZNF genes & repeats	HSMMtube	muscle
42	chr19:44961600-44963200	Weak transcription	K562	blood
43	chr19:44963200-44963400	Enhancers	K562	blood
44	chr19:44966800-44992400	ZNF genes & repeats	Liver	Liver
45	chr19:44967000-44967800	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr19:44967200-44992800	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr19:44968000-44970400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:44968000-44971800	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr19:44969600-44969800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:44969800-44992200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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