Variant report

Variant	nsv2444
Chromosome Location	chr19:23105437-23151165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:23128448-23128739	K562	blood:	n/a	n/a
2	CBX3	chr19:23128373-23128734	K562	blood:	n/a	n/a
3	CBX3	chr19:23128402-23128691	HCT-116	colon:	n/a	n/a
4	CEBPB	chr19:23118313-23118486	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:23118721-23118923	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:23116866-23117566	A549	lung:	n/a	n/a
7	CEBPB	chr19:23107004-23107585	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:23118694-23118941	A549	lung:	n/a	n/a
9	CEBPB	chr19:23116869-23117510	IMR90	lung:	n/a	n/a
10	CEBPB	chr19:23118289-23118446	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:23116861-23117528	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:23118365-23118458	A549	lung:	n/a	n/a
13	CEBPB	chr19:23106996-23107641	A549	lung:	n/a	n/a
14	CEBPB	chr19:23107039-23107556	IMR90	lung:	n/a	n/a
15	CEBPZ	chr19:23128408-23128691	HepG2	liver:	n/a	n/a
16	CTCF	chr19:23137076-23137102	GM13976	blood:	n/a	n/a
17	CTCF	chr19:23126604-23126632	LNCaP	prostate:	n/a	n/a
18	CTCF	chr19:23128743-23128811	GM20000	blood:	n/a	n/a
19	FOS	chr19:23118161-23118254	MCF10A-Er-Src	breast:	n/a	n/a
20	IRF1	chr19:23128492-23128575	K562	blood:	n/a	n/a
21	IRF1	chr19:23128491-23128683	K562	blood:	n/a	n/a
22	JUN	chr19:23128536-23128736	K562	blood:	n/a	n/a
23	JUND	chr19:23107509-23107709	HepG2	liver:	n/a	n/a
24	JUND	chr19:23114496-23114687	HepG2	liver:	n/a	chr19:23114530-23114541
25	KAP1	chr19:23128249-23128887	HEK293	kidney:	n/a	n/a
26	KAP1	chr19:23128035-23128973	K562	blood:	n/a	n/a
27	KAP1	chr19:23128413-23128733	U2OS	brain:	n/a	n/a
28	MAFF	chr19:23150312-23150613	HepG2	liver:	n/a	n/a
29	MAFK	chr19:23143946-23144147	HepG2	liver:	n/a	chr19:23144005-23144021 chr19:23144006-23144017 chr19:23144005-23144016 chr19:23144005-23144016 chr19:23144004-23144018 chr19:23144006-23144017
30	MAFK	chr19:23150291-23150626	HepG2	liver:	n/a	n/a
31	MAFK	chr19:23150315-23150645	IMR90	lung:	n/a	n/a
32	MAFK	chr19:23106867-23107067	HepG2	liver:	n/a	n/a
33	MAFK	chr19:23150326-23150541	HepG2	liver:	n/a	n/a
34	MAX	chr19:23128504-23128630	NB4	blood:	n/a	n/a
35	MYC	chr19:23128674-23128676	K562	blood:	n/a	n/a
36	MYC	chr19:23128508-23128648	HUVEC	blood vessel:	n/a	n/a
37	MYC	chr19:23128444-23128645	K562	blood:	n/a	n/a
38	MYC	chr19:23128685-23128721	K562	blood:	n/a	n/a
39	MYC	chr19:23128521-23128647	NB4	blood:	n/a	n/a
40	NR2F2	chr19:23110988-23111297	K562	blood:	n/a	n/a
41	NR2F2	chr19:23110898-23111408	K562	blood:	n/a	n/a
42	POLR2A	chr19:23132555-23132561	A549	lung:	n/a	n/a
43	POLR2A	chr19:23127257-23127284	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:23132731-23132741	MCF-7	breast:	n/a	n/a
45	POLR2A	chr19:23132563-23132694	A549	lung:	n/a	n/a
46	SETDB1	chr19:23128299-23128916	U2OS	brain:	n/a	n/a
47	SETDB1	chr19:23128385-23128742	K562	blood:	n/a	n/a
48	STAT3	chr19:23150386-23150485	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr19:23106606-23106800	MCF10A-Er-Src	breast:	n/a	n/a
50	TRIM28	chr19:23128464-23128679	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22121231..22124221-chr19:23121228..23123891,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF99-2	chr19:23128467-23128510	XLOC_013271
2	lnc-ZNF99-2	chr19:23115571-23115840	XLOC_013271

No data

Variant related genes	Relation type
ENSG00000269458	TF binding region
ENSG00000269615	chromatin interactions

Extended variants
information (count: 400 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184290447	chr19:23106667-23106668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559479505	chr19:23106668-23106669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372103575	chr19:23106672-23106673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs578167507	chr19:23106682-23106683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs373249958	chr19:23106695-23106696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150640274	chr19:23106740-23106741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62122474	chr19:23106752-23106753	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530393630	chr19:23106782-23106783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs144662351	chr19:23106938-23106939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs117355195	chr19:23106939-23106940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62122475	chr19:23106954-23106955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113753846	chr19:23106955-23106956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573186617	chr19:23106978-23106979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540720762	chr19:23106996-23106997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140625755	chr19:23106997-23106998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549618464	chr19:23107015-23107016	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533098818	chr19:23107017-23107018	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144500103	chr19:23107059-23107060	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147411621	chr19:23107087-23107088	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139657582	chr19:23107100-23107101	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548893155	chr19:23107117-23107118	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs560542733	chr19:23107134-23107135	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs528114924	chr19:23107157-23107158	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs73551527	chr19:23107172-23107173	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs367770815	chr19:23107197-23107198	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571259380	chr19:23107239-23107240	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539194634	chr19:23107314-23107315	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142584332	chr19:23107383-23107384	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs10410249	chr19:23107422-23107423	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536925994	chr19:23107431-23107432	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370200509	chr19:23107464-23107465	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555351176	chr19:23107474-23107475	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs573183179	chr19:23107482-23107483	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533952890	chr19:23107495-23107496	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139492255	chr19:23107502-23107503	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149672768	chr19:23107518-23107519	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544331951	chr19:23107540-23107541	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563119301	chr19:23107555-23107556	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs199783314	chr19:23107581-23107582	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569524818	chr19:23107622-23107623	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs10408944	chr19:23107647-23107648	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542504043	chr19:23107649-23107650	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs561036376	chr19:23107670-23107671	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189498197	chr19:23107699-23107700	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546301322	chr19:23107711-23107712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564960829	chr19:23107724-23107725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs532094933	chr19:23107751-23107752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140737614	chr19:23107783-23107784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569472327	chr19:23107784-23107785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs536890319	chr19:23107785-23107786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23107000-23107800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:23126600-23130000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:23127400-23129600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:23128000-23129800	ZNF genes & repeats	Liver	Liver
5	chr19:23128000-23130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:23128000-23130600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:23128400-23128800	Active TSS	Fetal Heart	heart
8	chr19:23129400-23130000	Active TSS	Right Atrium	heart
9	chr19:23132400-23133000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:23132400-23133200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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