Variant report

Variant	esv3318111
Chromosome Location	chr19:39470551-39471952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:39471188-39471531	K562	blood:	n/a	n/a
2	CBX3	chr19:39471029-39471585	K562	blood:	n/a	n/a
3	CBX3	chr19:39470318-39470873	K562	blood:	n/a	n/a
4	CCNT2	chr19:39470572-39470767	K562	blood:	n/a	n/a
5	CEBPB	chr19:39471573-39471843	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:39471497-39471823	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:39471528-39471914	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:39471524-39471909	HepG2	liver:	n/a	n/a
9	CEBPD	chr19:39470364-39470908	K562	blood:	n/a	n/a
10	CTCF	chr19:39471440-39471590	HepG2	liver:	n/a	n/a
11	CTCF	chr19:39471360-39471642	HepG2	liver:	n/a	n/a
12	CTCF	chr19:39471505-39471622	HepG2	liver:	n/a	n/a
13	CTCF	chr19:39471420-39471570	HepG2	liver:	n/a	n/a
14	CTCF	chr19:39470500-39470650	GM12872	blood:	n/a	n/a
15	CUX1	chr19:39470623-39470692	K562	blood:	n/a	n/a
16	E2F6	chr19:39470446-39470618	K562	blood:	n/a	n/a
17	ELF1	chr19:39470531-39470853	K562	blood:	n/a	n/a
18	EP300	chr19:39470569-39470854	K562	blood:	n/a	n/a
19	EP300	chr19:39471444-39471941	HepG2	liver:	n/a	n/a
20	FOXA1	chr19:39471425-39471866	HepG2	liver:	n/a	n/a
21	FOXA1	chr19:39471504-39471937	HepG2	liver:	n/a	n/a
22	FOXA1	chr19:39471390-39471967	HepG2	liver:	n/a	n/a
23	FOXA1	chr19:39471491-39471980	HepG2	liver:	n/a	n/a
24	FOXA2	chr19:39471461-39471872	HepG2	liver:	n/a	n/a
25	GABPA	chr19:39470482-39470797	K562	blood:	n/a	n/a
26	GATA2	chr19:39470498-39470908	K562	blood:	n/a	n/a
27	HDAC2	chr19:39471485-39471996	HepG2	liver:	n/a	n/a
28	KAP1	chr19:39470996-39471925	K562	blood:	n/a	n/a
29	KAP1	chr19:39471274-39471633	U2OS	brain:	n/a	n/a
30	MAX	chr19:39470398-39470637	K562	blood:	n/a	chr19:39470507-39470520 chr19:39470508-39470519 chr19:39470511-39470518 chr19:39470508-39470519 chr19:39470509-39470518
31	MAX	chr19:39470640-39470682	K562	blood:	n/a	n/a
32	MAX	chr19:39470332-39470755	K562	blood:	n/a	chr19:39470507-39470520 chr19:39470508-39470519 chr19:39470511-39470518 chr19:39470508-39470519 chr19:39470509-39470518
33	MYC	chr19:39471508-39471562	HepG2	liver:	n/a	n/a
34	MYC	chr19:39471909-39471914	MCF-7	breast:	n/a	n/a
35	MYC	chr19:39470523-39470653	K562	blood:	n/a	n/a
36	MYC	chr19:39471484-39471506	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:39471504-39471769	HepG2	liver:	n/a	n/a
38	POLR2A	chr19:39470483-39470811	K562	blood:	n/a	n/a
39	RAD21	chr19:39471413-39471711	HepG2	liver:	n/a	n/a
40	RCOR1	chr19:39470520-39470724	K562	blood:	n/a	n/a
41	RCOR1	chr19:39470511-39470809	K562	blood:	n/a	n/a
42	SETDB1	chr19:39471136-39471888	U2OS	brain:	n/a	n/a
43	SMC3	chr19:39471503-39471659	HepG2	liver:	n/a	n/a
44	TAL1	chr19:39470448-39470890	K562	blood:	n/a	n/a
45	TBL1XR1	chr19:39470556-39470735	K562	blood:	n/a	n/a
46	TEAD4	chr19:39470420-39470858	K562	blood:	n/a	n/a
47	TEAD4	chr19:39470392-39470816	K562	blood:	n/a	n/a
48	TRIM28	chr19:39471116-39471519	K562	blood:	n/a	n/a
49	USF1	chr19:39470357-39470744	K562	blood:	n/a	n/a
50	ZBTB7A	chr19:39471677-39471883	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39470454..39473191-chr19:39473840..39476726,2	MCF-7	breast:
2	chr19:39470241..39471919-chr19:39522742..39524502,2	MCF-7	breast:
3	chr19:39466590..39468490-chr19:39469783..39471749,2	MCF-7	breast:
4	chr19:39420391..39423581-chr19:39468736..39471563,3	K562	blood:
5	chr19:39469273..39472050-chr19:39495885..39497816,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO17	TF binding region
ENSG00000128626	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000161243	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34718939	chr19:39470571-39470572	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs76803304	chr19:39470583-39470584	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545199975	chr19:39470588-39470589	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs1672660	chr19:39470635-39470636	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572095752	chr19:39470672-39470673	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs552855451	chr19:39470692-39470693	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs542269855	chr19:39470699-39470700	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs35741376	chr19:39470727-39470728	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs560896116	chr19:39470758-39470759	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs139977270	chr19:39470794-39470795	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs142217574	chr19:39470821-39470822	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs533461313	chr19:39470828-39470829	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528730392	chr19:39470840-39470841	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs371748174	chr19:39470846-39470847	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs7248404	chr19:39470856-39470857	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs565223490	chr19:39470860-39470861	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs190702262	chr19:39470861-39470862	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs181567736	chr19:39470865-39470866	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs146788186	chr19:39470866-39470867	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs536701920	chr19:39470916-39470917	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs540193974	chr19:39470941-39470942	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548313273	chr19:39470974-39470975	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs569998178	chr19:39470981-39470982	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537427168	chr19:39470986-39470987	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs112589692	chr19:39470996-39470997	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs556522471	chr19:39471003-39471004	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs186888391	chr19:39471005-39471006	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs111278636	chr19:39471048-39471049	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs77907567	chr19:39471076-39471077	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs538874221	chr19:39471085-39471086	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs548866680	chr19:39471116-39471117	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs189217581	chr19:39471119-39471120	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs688559	chr19:39471120-39471121	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
34	rs568693543	chr19:39471130-39471131	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs554285944	chr19:39471131-39471132	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs575668782	chr19:39471148-39471149	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs529315248	chr19:39471195-39471196	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs144308600	chr19:39471222-39471223	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs549445990	chr19:39471366-39471367	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs537668178	chr19:39471405-39471406	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs146571454	chr19:39471431-39471432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs368358242	chr19:39471455-39471456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs530150128	chr19:39471462-39471463	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs581978	chr19:39471471-39471472	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs570143114	chr19:39471472-39471473	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs375157126	chr19:39471473-39471474	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs141037533	chr19:39471487-39471488	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs143128963	chr19:39471530-39471531	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538880628	chr19:39471531-39471532	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs553707724	chr19:39471532-39471533	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39467400-39471200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:39467600-39471400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:39467600-39471400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:39469400-39471400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:39470200-39471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:39470400-39470800	ZNF genes & repeats	Liver	Liver
7	chr19:39470400-39470800	Enhancers	K562	blood
8	chr19:39470400-39472000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:39470800-39471400	Weak transcription	Liver	Liver
10	chr19:39471200-39471400	Enhancers	HepG2	liver
11	chr19:39471200-39472000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:39471400-39471600	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr19:39471400-39472000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr19:39471400-39472200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:39471400-39472200	Flanking Active TSS	HepG2	liver
16	chr19:39471400-39472800	Enhancers	Liver	Liver
17	chr19:39471800-39472000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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