Variant report

Variant	esv2762030
Chromosome Location	chr19:24002839-24044461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:329)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:329 , 50 per page) page: 1 2 3 4 5 6 7

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	BHLHE40	chr19:24006925-24007160	K562	blood:	n/a	n/a
3	CBX3	chr19:24006626-24007181	K562	blood:	n/a	n/a
4	CBX3	chr19:24006670-24007006	K562	blood:	n/a	n/a
5	CEBPB	chr19:24007084-24007141	K562	blood:	n/a	n/a
6	CEBPB	chr19:24005510-24006011	MCF-7	breast:	n/a	n/a
7	CEBPB	chr19:24004841-24005271	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:24006880-24007030	GM12872	blood:	n/a	n/a
9	CTCF	chr19:24026411-24026528	LNCaP	prostate:	n/a	n/a
10	CTCF	chr19:24006800-24006950	HMEC	breast:	n/a	n/a
11	CTCF	chr19:24038740-24038890	HVMF	connective:	n/a	n/a
12	CTCF	chr19:24006860-24007010	RPTEC	kidney:	n/a	n/a
13	CTCF	chr19:24006800-24006950	GM12865	blood:	n/a	n/a
14	CTCF	chr19:24006860-24007010	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr19:24038598-24038733	A549	lung:	n/a	n/a
16	CTCF	chr19:24006835-24007045	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr19:24006900-24007050	GM12873	blood:	n/a	n/a
18	CTCF	chr19:24006820-24006970	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr19:24006780-24006930	GM06990	blood:	n/a	n/a
20	CTCF	chr19:24006780-24006930	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr19:24038580-24038730	HEK293	kidney:	n/a	n/a
22	CTCF	chr19:24010571-24010626	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr19:24006863-24006931	GM10248	blood:	n/a	n/a
24	CTCF	chr19:24006820-24006970	GM12869	blood:	n/a	n/a
25	CTCF	chr19:24006800-24006950	GM12873	blood:	n/a	n/a
26	CTCF	chr19:24038620-24038770	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr19:24038460-24038610	GM12872	blood:	n/a	n/a
28	CTCF	chr19:24006894-24007020	GM10266	blood:	n/a	n/a
29	CTCF	chr19:24038360-24038510	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr19:24006820-24006970	A549	lung:	n/a	n/a
31	CTCF	chr19:24006880-24007030	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr19:24006921-24006941	Fibrobl	skin:	n/a	n/a
33	CTCF	chr19:24006880-24007030	BE2_C	brain:	n/a	n/a
34	CTCF	chr19:24006820-24006970	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr19:24006780-24006930	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr19:24006709-24007021	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr19:24006820-24006970	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr19:24038560-24038710	GM12869	blood:	n/a	n/a
39	CTCF	chr19:24006860-24007010	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr19:24006820-24006970	GM12874	blood:	n/a	n/a
41	CTCF	chr19:24038580-24038730	GM12864	blood:	n/a	n/a
42	CTCF	chr19:24038670-24038696	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr19:24006880-24007030	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr19:24007002-24007004	HepG2	liver:	n/a	n/a
45	CTCF	chr19:24038600-24038750	GM12864	blood:	n/a	n/a
46	CTCF	chr19:24006880-24007030	GM12868	blood:	n/a	n/a
47	CTCF	chr19:24006800-24006950	NB4	blood:	n/a	n/a
48	CTCF	chr19:24038580-24038717	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr19:24013196-24013246	GM10266	blood:	n/a	n/a
50	CTCF	chr19:24006724-24007052	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23990207..23992454-chr19:24002314..24004892,2	K562	blood:
2	chr19:24000616..24002168-chr19:24002694..24005183,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-2	chr19:24014399-24014998	NONHSAT063934
2	lnc-RPSAP58-2	chr19:24014399-24014998	NONHSAT063933

No data

Variant related genes	Relation type
RPSAP58	TF binding region

Extended variants
information (count: 2084 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:2084 , 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	rs7260366	chr19:24002839-24002840	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78420173	chr19:24002859-24002860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533446696	chr19:24002868-24002869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7260490	chr19:24002940-24002941	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563515056	chr19:24002990-24002991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184369214	chr19:24003032-24003033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113487648	chr19:24003034-24003035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7260024	chr19:24003077-24003078	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567394308	chr19:24003089-24003090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13343314	chr19:24003202-24003203	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114940692	chr19:24003204-24003205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139487170	chr19:24003229-24003230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539332084	chr19:24003248-24003249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556082015	chr19:24003249-24003250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6511585	chr19:24003272-24003273	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs149686652	chr19:24003321-24003322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537217723	chr19:24003400-24003401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538465397	chr19:24003467-24003468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188900910	chr19:24003470-24003471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200090614	chr19:24003496-24003497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149426084	chr19:24003497-24003498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55728028	chr19:24003499-24003500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76308242	chr19:24003500-24003501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377093685	chr19:24003501-24003502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558337320	chr19:24003508-24003509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182031086	chr19:24003533-24003534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34620010	chr19:24003546-24003547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559081454	chr19:24003553-24003554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577592604	chr19:24003572-24003573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371984078	chr19:24003584-24003585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145531726	chr19:24003590-24003591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577678191	chr19:24003598-24003599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371295127	chr19:24003623-24003624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539943568	chr19:24003638-24003639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386808150	chr19:24003649-24003650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6511587	chr19:24003650-24003651	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184624821	chr19:24003676-24003677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571531137	chr19:24003677-24003678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528575313	chr19:24003732-24003733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556436365	chr19:24003748-24003749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547101047	chr19:24003766-24003767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571535982	chr19:24003768-24003769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538989572	chr19:24003773-24003774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112119262	chr19:24003829-24003830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139629475	chr19:24003852-24003853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537354673	chr19:24003878-24003879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189314330	chr19:24003926-24003927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8102825	chr19:24003960-24003961	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138194636	chr19:24003975-24003976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180973607	chr19:24003979-24003980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23982200-24004400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:23994200-24004000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:23997200-24010000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:23997600-24004200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:23999800-24005600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:23999800-24006400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:24003200-24003400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr19:24003200-24007000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:24003800-24007400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:24003800-24007400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:24004000-24004800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:24004000-24005200	ZNF genes & repeats	Esophagus	oesophagus
13	chr19:24004000-24005200	Enhancers	Gastric	stomach
14	chr19:24004000-24007000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:24004000-24009800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr19:24004400-24004600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr19:24004600-24005000	Enhancers	Placenta	Placenta
18	chr19:24004800-24005200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:24005000-24005600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr19:24005000-24005600	Enhancers	Stomach Mucosa	stomach
21	chr19:24005000-24006800	ZNF genes & repeats	Placenta	Placenta
22	chr19:24005000-24007400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr19:24005400-24007200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:24005600-24007200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:24005800-24007400	ZNF genes & repeats	Dnd41	blood
26	chr19:24006000-24007200	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr19:24006000-24009600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr19:24006200-24007000	ZNF genes & repeats	Fetal Lung	lung
29	chr19:24006400-24006800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:24006400-24006800	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr19:24006400-24007000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:24006800-24009800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr19:24006800-24011000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:24007000-24009000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:24007200-24009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:24007200-24009000	Weak transcription	Ovary	ovary
37	chr19:24008400-24010000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:24008400-24010200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:24009000-24009200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:24009000-24009400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr19:24009000-24009400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr19:24009000-24009400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:24009000-24009400	Strong transcription	Ovary	ovary
44	chr19:24009000-24009400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr19:24009000-24009600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:24009000-24009600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:24009400-24015600	Weak transcription	Ovary	ovary
48	chr19:24009600-24011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:24010000-24010800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:24010000-24011000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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