Variant report

Variant	esv3327554
Chromosome Location	chr19:23968978-24081364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:738)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:738 , 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	ATF1	chr19:24006791-24007164	K562	blood:	n/a	n/a
2	BACH1	chr19:24000521-24000697	K562	blood:	n/a	n/a
3	BHLHE40	chr19:24006925-24007160	K562	blood:	n/a	n/a
4	CBX3	chr19:24006626-24007181	K562	blood:	n/a	n/a
5	CBX3	chr19:24006670-24007006	K562	blood:	n/a	n/a
6	CEBPB	chr19:24072689-24072942	A549	lung:	n/a	n/a
7	CEBPB	chr19:23969813-23970335	MCF-7	breast:	n/a	n/a
8	CEBPB	chr19:24007084-24007141	K562	blood:	n/a	n/a
9	CEBPB	chr19:23970646-23970667	A549	lung:	n/a	n/a
10	CEBPB	chr19:24065481-24065571	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:23992206-23992260	K562	blood:	n/a	n/a
12	CEBPB	chr19:23971276-23971470	A549	lung:	n/a	chr19:23971380-23971391
13	CEBPB	chr19:23969922-23970224	IMR90	lung:	n/a	n/a
14	CEBPB	chr19:23971312-23971526	HepG2	liver:	n/a	chr19:23971380-23971391
15	CEBPB	chr19:23969436-23970244	A549	lung:	n/a	n/a
16	CEBPB	chr19:24004841-24005271	MCF-7	breast:	n/a	n/a
17	CEBPB	chr19:24005510-24006011	MCF-7	breast:	n/a	n/a
18	CEBPB	chr19:23969888-23970305	K562	blood:	n/a	n/a
19	CEBPB	chr19:24072664-24072864	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:24048053-24048211	A549	lung:	n/a	n/a
21	CEBPB	chr19:24000487-24000738	K562	blood:	n/a	n/a
22	CEBPB	chr19:24067770-24067949	HepG2	liver:	n/a	n/a
23	CEBPB	chr19:23969555-23969641	K562	blood:	n/a	n/a
24	CEBPB	chr19:23969400-23969658	HepG2	liver:	n/a	n/a
25	CEBPZ	chr19:24070604-24070807	HepG2	liver:	n/a	n/a
26	CEBPZ	chr19:24065321-24065511	HepG2	liver:	n/a	n/a
27	CTCF	chr19:24000440-24000590	AG04449	skin:	n/a	n/a
28	CTCF	chr19:24038600-24038750	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr19:24006887-24006956	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:24050820-24050970	BE2_C	brain:	n/a	n/a
31	CTCF	chr19:24000321-24000880	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr19:24000300-24000450	RPTEC	kidney:	n/a	n/a
33	CTCF	chr19:24000434-24000603	HepG2	liver:	n/a	n/a
34	CTCF	chr19:24006798-24007030	GM19238	blood:	n/a	n/a
35	CTCF	chr19:24000500-24000650	GM06990	blood:	n/a	n/a
36	CTCF	chr19:24006684-24007040	K562	blood:	n/a	n/a
37	CTCF	chr19:24000410-24000639	LNCaP	prostate:	n/a	n/a
38	CTCF	chr19:24000497-24000541	MCF-7	breast:	n/a	n/a
39	CTCF	chr19:24000300-24000450	HAc	cerebellar:	n/a	n/a
40	CTCF	chr19:24006835-24007045	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr19:24000440-24000590	GM12867	blood:	n/a	n/a
42	CTCF	chr19:24000422-24000609	GM12891	blood:	n/a	n/a
43	CTCF	chr19:24050892-24050919	GM13977	blood:	n/a	n/a
44	CTCF	chr19:24006900-24007050	HCFaa	heart:	n/a	n/a
45	CTCF	chr19:24038620-24038770	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr19:24000436-24000626	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr19:24006840-24006990	GM12867	blood:	n/a	n/a
48	CTCF	chr19:24006820-24006970	BE2_C	brain:	n/a	n/a
49	CTCF	chr19:24026411-24026528	LNCaP	prostate:	n/a	n/a
50	CTCF	chr19:24038620-24038770	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:24000616..24002168-chr19:24002694..24005183,2	MCF-7	breast:
2	chr19:24046219..24048369-chr19:24050993..24053040,2	MCF-7	breast:
3	chr19:24046219..24048369-chr19:24050993..24053040,2	MCF-7	breast:
4	chr19:24000616..24002168-chr19:24002694..24005183,2	MCF-7	breast:
5	chr19:23990207..23992454-chr19:24002314..24004892,2	K562	blood:
6	chr19:23990207..23992454-chr19:24002314..24004892,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-2	chr19:24014399-24014998	NONHSAT063933
2	lnc-RPSAP58-2	chr19:23990628-23990741	NONHSAT063935
3	lnc-ZNF726-1	chr19:23969576-23969850	ENSG00000250795
4	lnc-ZNF726-1	chr19:23969947-23970608	ENSG00000250795
5	lnc-ZNF726-1	chr19:23968384-23969193	ENSG00000250795
6	lnc-RPSAP58-3	chr19:24053508-24054170	NONHSAT063942
7	lnc-RPSAP58-2	chr19:24014399-24014998	NONHSAT063934
8	lnc-RPSAP58-2	chr19:23991521-23992317	NONHSAT063935
9	lnc-RPSAP58-3	chr19:24047842-24047979	NONHSAT063941
10	lnc-RPSAP58-2	chr19:23990628-23990741	NONHSAT063933
11	lnc-RPSAP58-2	chr19:23991521-23991616	NONHSAT063933
12	lnc-RPSAP58-3	chr19:24051517-24052736	NONHSAT063942
13	lnc-RPSAP58-3	chr19:24051557-24054170	NONHSAT063941
14	lnc-ZNF681-3	chr19:23981726-23982279	NONHSAT063937

No data

Variant related genes	Relation type
ENSG00000267924	TF binding region
RPSAP58	TF binding region
ENSG00000269662	TF binding region
ENSG00000233836	TF binding region
GATA6	miRNA target sites
NOTCH2	miRNA target sites
TIAL1	miRNA target sites

Extended variants
information (count: 5170 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:5170 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7409212	chr19:23968995-23968996	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587744279	chr19:23969019-23969020	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs138995338	chr19:23969041-23969042	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs555450711	chr19:23969088-23969089	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs112099519	chr19:23969090-23969091	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs76794999	chr19:23969121-23969122	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540357561	chr19:23969135-23969136	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553815360	chr19:23969136-23969137	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs7409228	chr19:23969164-23969165	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111551823	chr19:23969189-23969190	Strong transcription Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs7409230	chr19:23969194-23969195	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7409342	chr19:23969208-23969209	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563696361	chr19:23969224-23969225	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575800621	chr19:23969227-23969228	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542705928	chr19:23969246-23969247	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6511551	chr19:23969260-23969261	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573626502	chr19:23969274-23969275	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528456402	chr19:23969294-23969295	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546625336	chr19:23969344-23969345	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6511552	chr19:23969347-23969348	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533052641	chr19:23969402-23969403	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs78723456	chr19:23969422-23969423	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs527954034	chr19:23969429-23969430	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112098678	chr19:23969454-23969455	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183664257	chr19:23969462-23969463	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs537253825	chr19:23969480-23969481	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548802308	chr19:23969503-23969504	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567410440	chr19:23969510-23969511	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534577067	chr19:23969546-23969547	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs189935200	chr19:23969601-23969602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs552975165	chr19:23969627-23969628	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs7507337	chr19:23969656-23969657	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs144365752	chr19:23969668-23969669	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs557634013	chr19:23969682-23969683	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs562302538	chr19:23969700-23969701	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs575743752	chr19:23969754-23969755	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs543244249	chr19:23969758-23969759	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs531539001	chr19:23969762-23969763	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs544898079	chr19:23969789-23969790	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs561031699	chr19:23969842-23969843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs147821098	chr19:23969844-23969845	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs540351878	chr19:23969847-23969848	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs553691026	chr19:23969850-23969851	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs7507284	chr19:23969854-23969855	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542419861	chr19:23969882-23969883	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62121296	chr19:23969926-23969927	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563647494	chr19:23969930-23969931	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527465775	chr19:23969953-23969954	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs7507272	chr19:23969960-23969961	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181100757	chr19:23969981-23969982	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23946800-23973000	Weak transcription	Brain Hippocampus Middle	brain
2	chr19:23947200-23978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:23947400-23973000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:23947400-23973800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:23948000-23969000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:23948000-23972400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:23948000-23976600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:23948200-23975600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr19:23949600-23972600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:23949800-23975000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:23951400-23973800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:23952000-23974200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:23953800-23971600	Strong transcription	K562	blood
14	chr19:23955200-23969800	Weak transcription	Right Ventricle	heart
15	chr19:23956600-23971600	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr19:23956800-23973800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr19:23958200-23969600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:23958600-23973800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:23959600-23975000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:23959800-23971600	Weak transcription	Brain Anterior Caudate	brain
21	chr19:23960600-23973200	Weak transcription	Spleen	Spleen
22	chr19:23960800-23975800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:23961000-23973400	Weak transcription	Aorta	Aorta
24	chr19:23962200-23972800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:23962800-23969800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:23963000-23972800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr19:23963000-23973200	Weak transcription	Colonic Mucosa	Colon
28	chr19:23963400-23978200	Weak transcription	Fetal Lung	lung
29	chr19:23963600-23970800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:23963800-23974800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:23964000-23971000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr19:23964200-23970600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:23964400-23971600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:23964600-23970000	Strong transcription	Primary T cells from cord blood	blood
35	chr19:23965000-23973400	Weak transcription	Esophagus	oesophagus
36	chr19:23965400-23969400	Weak transcription	Thymus	Thymus
37	chr19:23965400-23971800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:23965400-23976400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:23965600-23971400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:23965600-23972600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:23965600-24000400	Weak transcription	Pancreas	Pancrea
42	chr19:23965800-23969800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr19:23965800-23976200	Weak transcription	Fetal Kidney	kidney
44	chr19:23966000-23970600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:23966200-23969600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:23966200-23969800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:23966200-23971400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr19:23966400-23969000	Weak transcription	Brain Angular Gyrus	brain
49	chr19:23967000-23972200	Weak transcription	Fetal Heart	heart
50	chr19:23967200-23969600	Weak transcription	Duodenum Mucosa	Duodenum

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