Variant report

Variant	esv1835605
Chromosome Location	chr19:23316947-23349969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:23324003-23324028	GM20000	blood:	n/a	n/a
2	CTCF	chr19:23325913-23325996	GM10248	blood:	n/a	n/a
3	FOXA2	chr19:23317684-23318015	A549	lung:	n/a	n/a
4	GATA3	chr19:23349892-23350063	SH-SY5Y	brain:	n/a	n/a
5	JUND	chr19:23343110-23343310	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr19:23336089-23336101	IMR90	lung:	n/a	n/a
7	MYC	chr19:23348432-23348454	MCF-7	breast:	n/a	n/a
8	MYC	chr19:23348467-23348494	MCF-7	breast:	n/a	n/a
9	NR2F2	chr19:23346763-23347048	K562	blood:	n/a	n/a
10	NR2F2	chr19:23317549-23317987	K562	blood:	n/a	n/a
11	NR2F2	chr19:23317585-23317985	K562	blood:	n/a	n/a
12	PAX5	chr19:23344297-23344573	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:23330889-23330965	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:23346478-23346505	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:23329637-23329671	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr19:23331019-23331075	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:23347191-23347302	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:23349119-23349286	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr19:23341654-23341775	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:23333405-23333490	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:23330377-23330453	MCF10A-Er-Src	breast:	n/a	n/a
22	RFX5	chr19:23348571-23348668	K562	blood:	n/a	n/a
23	SETDB1	chr19:23328585-23328772	U2OS	brain:	n/a	n/a
24	STAT3	chr19:23328893-23329093	MCF10A-Er-Src	breast:	n/a	n/a
25	ZNF143	chr19:23343239-23343307	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF274	chr19:23328554-23329271	GM08714	blood:	n/a	n/a
27	ZNF274	chr19:23328057-23329392	NT2-D1	testis:	n/a	n/a
28	ZNF274	chr19:23327689-23329630	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZNF274	chr19:23327780-23329395	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF730-5	chr19:23331932-23332763	NONHSAT063860

No data

Variant related genes	Relation type
ZNF730	TF binding region

Extended variants
information (count: 1019 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11670477	chr19:23316947-23316948	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186418778	chr19:23316988-23316989	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545278464	chr19:23317040-23317041	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs529873703	chr19:23317055-23317056	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549500702	chr19:23317075-23317076	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563983422	chr19:23317092-23317093	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189656056	chr19:23317094-23317095	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs367664006	chr19:23317104-23317105	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs542995486	chr19:23317159-23317160	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561309200	chr19:23317176-23317177	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528594864	chr19:23317177-23317178	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547070751	chr19:23317194-23317195	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571779727	chr19:23317195-23317196	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533115948	chr19:23317204-23317205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376117739	chr19:23317205-23317206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569910916	chr19:23317218-23317219	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560954890	chr19:23317221-23317222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376812147	chr19:23317242-23317243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554932253	chr19:23317244-23317245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529859423	chr19:23317255-23317256	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534319834	chr19:23317279-23317280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552607959	chr19:23317305-23317306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577332104	chr19:23317309-23317310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71163450	chr19:23317409-23317410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545564931	chr19:23317419-23317420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62122979	chr19:23317464-23317465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200159792	chr19:23317642-23317643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575558069	chr19:23317652-23317653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575886445	chr19:23317676-23317677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543000167	chr19:23317677-23317678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10413267	chr19:23317691-23317692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10413268	chr19:23317694-23317695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10413284	chr19:23317715-23317716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558163837	chr19:23317721-23317722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10413301	chr19:23317742-23317743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10413303	chr19:23317744-23317745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12985975	chr19:23317796-23317797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12985999	chr19:23317814-23317815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530587345	chr19:23317834-23317835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561572900	chr19:23317835-23317836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571525920	chr19:23317836-23317837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12985421	chr19:23317849-23317850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12985422	chr19:23317852-23317853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528454794	chr19:23317853-23317854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10413677	chr19:23317862-23317863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549747608	chr19:23317864-23317865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10413507	chr19:23317869-23317870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565350897	chr19:23317870-23317871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200936771	chr19:23317906-23317907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10413730	chr19:23317947-23317948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23301400-23317000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:23301800-23317000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:23307200-23321200	Weak transcription	NH-A	brain
4	chr19:23307200-23322600	Weak transcription	HSMM	muscle
5	chr19:23310800-23319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:23311000-23322600	Weak transcription	Fetal Kidney	kidney
7	chr19:23311200-23318800	Weak transcription	Fetal Lung	lung
8	chr19:23311800-23318600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:23312200-23319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:23312400-23319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:23315800-23317200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:23316200-23317400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr19:23316400-23317000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr19:23316400-23317000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:23316400-23320400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr19:23316600-23319000	Weak transcription	Brain Germinal Matrix	brain
17	chr19:23316600-23322600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:23316800-23317000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:23316800-23317200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr19:23316800-23318400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:23316800-23318600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:23316800-23319200	Weak transcription	Ovary	ovary
23	chr19:23316800-23319400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr19:23317000-23317200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:23317000-23318000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:23317000-23318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:23317000-23318600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:23317200-23317800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:23317200-23318600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:23317200-23318600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:23317200-23319200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:23317400-23317800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:23317400-23318600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:23317600-23321200	Weak transcription	Fetal Muscle Leg	muscle
35	chr19:23317800-23318800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:23318000-23318600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:23318000-23323400	Weak transcription	Fetal Thymus	thymus
38	chr19:23318000-23328800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:23318000-23330000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:23318000-23332600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:23318400-23325400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:23318400-23330000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr19:23318600-23318800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:23318600-23319600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:23318600-23319800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr19:23318600-23320000	ZNF genes & repeats	Fetal Brain Female	brain
47	chr19:23318600-23325200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:23318600-23328400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:23318600-23328800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:23318600-23328800	ZNF genes & repeats	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links