Variant report

Variant	esv3494593
Chromosome Location	chr19:22485508-22635008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:22509041-22509220	K562	blood:	n/a	n/a
2	BATF	chr19:22544504-22544653	GM12878	blood:	n/a	n/a
3	CEBPB	chr19:22531346-22532181	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:22506917-22507320	A549	lung:	n/a	n/a
5	CEBPB	chr19:22522874-22523129	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:22529203-22529641	A549	lung:	n/a	n/a
7	CEBPB	chr19:22508272-22508649	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:22510124-22510757	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:22510426-22510579	K562	blood:	n/a	n/a
10	CEBPB	chr19:22531229-22532187	A549	lung:	n/a	n/a
11	CEBPB	chr19:22511948-22512805	A549	lung:	n/a	n/a
12	CEBPB	chr19:22508487-22508554	K562	blood:	n/a	n/a
13	CEBPB	chr19:22508303-22508602	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr19:22620843-22621200	HepG2	liver:	n/a	chr19:22621023-22621034
15	CEBPB	chr19:22514424-22514733	MCF-7	breast:	n/a	chr19:22514477-22514488
16	CEBPB	chr19:22532395-22532629	HepG2	liver:	n/a	n/a
17	CEBPB	chr19:22529144-22529669	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:22516851-22517438	A549	lung:	n/a	chr19:22516901-22516912
19	CEBPB	chr19:22527001-22527576	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:22516879-22517384	IMR90	lung:	n/a	chr19:22516901-22516912
21	CEBPB	chr19:22514302-22514676	Hela-S3	cervix:	n/a	chr19:22514477-22514488
22	CEBPB	chr19:22620862-22621188	IMR90	lung:	n/a	chr19:22621023-22621034
23	CEBPB	chr19:22508316-22508615	IMR90	lung:	n/a	n/a
24	CEBPB	chr19:22620916-22621213	K562	blood:	n/a	chr19:22621023-22621034
25	CEBPB	chr19:22620851-22621195	A549	lung:	n/a	chr19:22621023-22621034
26	CEBPB	chr19:22506878-22507289	IMR90	lung:	n/a	n/a
27	CEBPB	chr19:22510167-22510721	A549	lung:	n/a	n/a
28	CEBPB	chr19:22527036-22527644	A549	lung:	n/a	n/a
29	CEBPB	chr19:22511976-22512799	HepG2	liver:	n/a	n/a
30	CEBPB	chr19:22510256-22510694	IMR90	lung:	n/a	n/a
31	CEBPB	chr19:22508292-22508647	MCF-7	breast:	n/a	n/a
32	CEBPB	chr19:22514302-22514676	K562	blood:	n/a	chr19:22514477-22514488
33	CEBPB	chr19:22506249-22506367	A549	lung:	n/a	n/a
34	CEBPB	chr19:22519640-22520060	A549	lung:	n/a	chr19:22519735-22519746
35	CEBPB	chr19:22522851-22523143	A549	lung:	n/a	n/a
36	CEBPB	chr19:22516819-22517421	HepG2	liver:	n/a	chr19:22516901-22516912
37	CEBPB	chr19:22620961-22621192	Hela-S3	cervix:	n/a	chr19:22621023-22621034
38	CEBPB	chr19:22512415-22512791	IMR90	lung:	n/a	n/a
39	CEBPB	chr19:22514182-22514677	HepG2	liver:	n/a	chr19:22514477-22514488
40	CEBPB	chr19:22506885-22507290	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:22508239-22508645	A549	lung:	n/a	n/a
42	CEBPB	chr19:22519607-22519921	HepG2	liver:	n/a	chr19:22519735-22519746
43	CEBPB	chr19:22514203-22514672	IMR90	lung:	n/a	chr19:22514477-22514488
44	CEBPB	chr19:22514204-22514751	A549	lung:	n/a	chr19:22514477-22514488
45	CTCF	chr19:22569844-22569869	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr19:22606668-22606719	GM10248	blood:	n/a	n/a
47	CTCF	chr19:22581742-22581801	GM13976	blood:	n/a	n/a
48	CTCF	chr19:22567920-22567967	GM13976	blood:	n/a	n/a
49	CTCF	chr19:22569658-22569731	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr19:22616480-22616630	SAEC	small airway:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22605186-22605236	BE2_C	brain:	n/a
2	chr19:22605186-22605236	BE2_C	brain:	n/a
3	chr19:22605186-22605236	H1-hESC	embryonic stem cell:	embryo
4	chr19:22605188-22605238	MCF10A-Er-Src	breast:	n/a
5	chr19:22605234-22605284	HMEC	breast:	n/a
6	chr19:22606486-22606536	BE2_C	brain:	n/a
7	chr19:22605234-22605284	SK-N-MC	brain:	n/a
8	chr19:22605234-22605284	Hela-S3	cervix:	n/a
9	chr19:22605151-22605201	ECC-1	luminal epithelium:	n/a
10	chr19:22605234-22605284	HPAEpiC	pulmonary alveolar:	n/a
11	chr19:22605186-22605236	AG04449	skin:	fetal
12	chr19:22605234-22605284	PrEC	prostate:	n/a
13	chr19:22605151-22605201	PANC-1	pancreas:	n/a
14	chr19:22605151-22605201	HEEpiC	esophagus:	n/a
15	chr19:22606486-22606536	HUVEC	blood vessel:	n/a
16	chr19:22606486-22606536	ProgFib	skin:	n/a
17	chr19:22604979-22605029	HRCEpiC	kidney:	n/a
18	chr19:22605188-22605238	Caco-2	colon:	n/a
19	chr19:22605186-22605236	HRCEpiC	kidney:	n/a
20	chr19:22606486-22606536	HCF	heart:	n/a
21	chr19:22605151-22605201	AG04450	lung:	fetal
22	chr19:22605234-22605284	NT2-D1	testis:	n/a
23	chr19:22605789-22605839	HL-60	blood:	n/a
24	chr19:22605188-22605238	HAEpiC	amniotic membrane:	n/a
25	chr19:22605151-22605201	AG09309	skin:	n/a
26	chr19:22605151-22605201	HNPCEpiC	eye:	n/a
27	chr19:22605188-22605238	MCF-7	breast:	n/a
28	chr19:22605186-22605236	HNPCEpiC	eye:	n/a
29	chr19:22605186-22605236	HL-60	blood:	n/a
30	chr19:22606486-22606536	NHDF-neo	bronchial:	n/a
31	chr19:22604979-22605029	AoSMC	blood vessel:	n/a
32	chr19:22605234-22605284	HCT-116	colon:	n/a
33	chr19:22606486-22606536	HRCEpiC	kidney:	n/a
34	chr19:22606486-22606536	IMR90	lung:	fetal
35	chr19:22605151-22605201	HUVEC	blood vessel:	n/a
36	chr19:22605151-22605201	HMEC	breast:	n/a
37	chr19:22604979-22605029	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:22605789-22605839	HRE	kidney:	n/a
39	chr19:22604979-22605029	SK-N-SH	brain:	n/a
40	chr19:22605188-22605238	HNPCEpiC	eye:	n/a
41	chr19:22606486-22606536	HCPEpiC	choroid plexus:	n/a
42	chr19:22606486-22606536	NB4	blood:	n/a
43	chr19:22605789-22605839	Jurkat	blood:	n/a
44	chr19:22604979-22605029	U87	brain:	n/a
45	chr19:22605789-22605839	HEK293	kidney:	embryo
46	chr19:22605186-22605236	HCPEpiC	choroid plexus:	n/a
47	chr19:22606486-22606536	ovcar-3	ovarian:	n/a
48	chr19:22604979-22605029	HIPEpiC	eye:	n/a
49	chr19:22606486-22606536	HRPEpiC	eye:	n/a
50	chr19:22605789-22605839	AG10803	skin:	n/a

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF98-6	chr19:22506254-22506708	NONHSAT063780
2	lnc-ZNF98-1	chr19:22514172-22514194	XLOC_013267
3	lnc-ZNF98-4	chr19:22631148-22631579	NONHSAT063788
4	lnc-ZNF98-9	chr19:22618464-22618808	NONHSAT063787
5	lnc-ZNF98-1	chr19:22511312-22511534	XLOC_013267
6	lnc-ZNF729-3	chr19:22531817-22532082	NONHSAT063783
7	lnc-ZNF98-4	chr19:22630736-22630857	NONHSAT063788
8	lnc-ZNF98-6	chr19:22505895-22506109	NONHSAT063780
9	lnc-ZNF729-4	chr19:22545391-22545627	NONHSAT063784
10	lnc-ZNF676-4	chr19:22598499-22598613	ucscGeneNc_uc002nqv_2
11	lnc-ZNF676-4	chr19:22590201-22591195	ucscGeneNc_uc002nqv_2
12	lnc-ZNF729-3	chr19:22534271-22534424	NONHSAT063783

No data

Variant related genes	Relation type
ENSG00000270947	TF binding region
ENSG00000268685	TF binding region
ENSG00000269796	TF binding region
ENSG00000270191	TF binding region
ENSG00000268830	TF binding region
ZNF98	TF binding region
RPL34P34	TF binding region
ENSG00000270947	CpG island
ENSG00000268685	CpG island
ENSG00000269796	CpG island
ENSG00000270191	CpG island
ENSG00000268830	CpG island
ZNF98	CpG island
RPL34P34	CpG island

Extended variants
information (count: 1937 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:1937 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139490330	chr19:22505914-22505915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563154543	chr19:22505916-22505917	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114860617	chr19:22505917-22505918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs548619009	chr19:22505928-22505929	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs143212625	chr19:22505970-22505971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372854579	chr19:22505972-22505973	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529945135	chr19:22505999-22506000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs112574044	chr19:22506023-22506024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs113277011	chr19:22506028-22506029	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs531957139	chr19:22506052-22506053	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550192701	chr19:22506062-22506063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs568524929	chr19:22506063-22506064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs77203926	chr19:22506077-22506078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs112354325	chr19:22506083-22506084	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs76894121	chr19:22506086-22506087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs533786782	chr19:22506095-22506096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561608417	chr19:22506286-22506287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs574910393	chr19:22506295-22506296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs542463966	chr19:22506299-22506300	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs560633368	chr19:22506301-22506302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs35956213	chr19:22506338-22506339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs527881418	chr19:22506398-22506399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs146179678	chr19:22506400-22506401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs116084977	chr19:22506409-22506410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs188586628	chr19:22506417-22506418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs550282607	chr19:22506429-22506430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs112558538	chr19:22506445-22506446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs113949386	chr19:22506446-22506447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs144480652	chr19:22506490-22506491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs145390435	chr19:22506502-22506503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs566701885	chr19:22506522-22506523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs149194750	chr19:22506589-22506590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs193135521	chr19:22506594-22506595	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs183119933	chr19:22506610-22506611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs111787064	chr19:22506620-22506621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs574737176	chr19:22506629-22506630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530665785	chr19:22506649-22506650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186733872	chr19:22506654-22506655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs74394134	chr19:22506672-22506673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs572681906	chr19:22506675-22506676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs191104857	chr19:22506678-22506679	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs117139918	chr19:22506705-22506706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs116176159	chr19:22507401-22507402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532962002	chr19:22507429-22507430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79523019	chr19:22507475-22507476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116672024	chr19:22507484-22507485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs576219755	chr19:22507486-22507487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576972063	chr19:22507503-22507504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543654397	chr19:22507528-22507529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553914180	chr19:22507541-22507542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22507400-22509000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:22507600-22508000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:22511600-22512200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr19:22514000-22517400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:22521000-22521200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr19:22527800-22528200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:22529000-22530200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr19:22529000-22530200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:22529200-22529800	ZNF genes & repeats	Pancreas	Pancrea
10	chr19:22533800-22534400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr19:22537600-22538000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:22554800-22555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:22572600-22573000	Weak transcription	Pancreas	Pancrea
14	chr19:22573000-22573400	ZNF genes & repeats	Pancreas	Pancrea
15	chr19:22573400-22577400	Weak transcription	Pancreas	Pancrea
16	chr19:22577400-22577600	ZNF genes & repeats	Pancreas	Pancrea
17	chr19:22577600-22577800	Weak transcription	Pancreas	Pancrea
18	chr19:22579600-22582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:22582600-22583000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:22582800-22583200	ZNF genes & repeats	Ovary	ovary
21	chr19:22583200-22588600	Weak transcription	Ovary	ovary
22	chr19:22588600-22589000	ZNF genes & repeats	Ovary	ovary
23	chr19:22590400-22590600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:22590600-22590800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:22595800-22604400	Weak transcription	Ovary	ovary
26	chr19:22599400-22600600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:22602600-22604400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:22604200-22605400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:22604200-22605400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr19:22604200-22605400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:22604200-22605600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:22604200-22609800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:22604400-22604600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr19:22604400-22604800	Active TSS	Fetal Heart	heart
35	chr19:22604400-22605000	ZNF genes & repeats	Liver	Liver
36	chr19:22604400-22605200	Active TSS	Colon Smooth Muscle	Colon
37	chr19:22604400-22605200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr19:22604400-22605200	Active TSS	Stomach Smooth Muscle	stomach
39	chr19:22604400-22605400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:22604400-22605400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr19:22604400-22605400	Active TSS	Brain Cingulate Gyrus	brain
42	chr19:22604400-22605400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:22604400-22605400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:22604400-22605400	Active TSS	Fetal Kidney	kidney
45	chr19:22604400-22605400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr19:22604400-22605400	ZNF genes & repeats	Ovary	ovary
47	chr19:22604400-22605400	ZNF genes & repeats	Right Atrium	heart
48	chr19:22604400-22605600	Active TSS	Right Ventricle	heart
49	chr19:22604400-22605800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr19:22604400-22611600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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