Variant report

Variant	esv3365187
Chromosome Location	chr19:52262512-52265548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:52263989-52264123	HepG2	liver:	n/a	chr19:52264099-52264113
2	MAFK	chr19:52264042-52264179	HepG2	liver:	n/a	chr19:52264099-52264113
3	POLR2A	chr19:52262771-52263902	K562	blood:	n/a	n/a
4	POLR2A	chr19:52265369-52265628	K562	blood:	n/a	n/a
5	POLR2A	chr19:52264550-52264605	K562	blood:	n/a	n/a
6	POLR2A	chr19:52264278-52264605	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:52264213-52264667	HL-60	blood:	n/a	n/a
8	REST	chr19:52264237-52264691	HL-60	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52264413-52264463	HEEpiC	esophagus:	n/a
2	chr19:52262969-52263019	GM12878	blood:	n/a
3	chr19:52264429-52264479	Hepatocyte	liver:	n/a
4	chr19:52263842-52263892	ECC-1	luminal epithelium:	n/a
5	chr19:52264429-52264479	AG09309	skin:	n/a
6	chr19:52262969-52263019	NB4	blood:	n/a
7	chr19:52264413-52264463	LNCaP	prostate:	n/a
8	chr19:52264429-52264479	HAEpiC	amniotic membrane:	n/a
9	chr19:52262969-52263019	HCM	heart:	n/a
10	chr19:52264411-52264461	BE2_C	brain:	n/a
11	chr19:52264429-52264479	GM12878	blood:	n/a
12	chr19:52264411-52264461	ovcar-3	ovarian:	n/a
13	chr19:52263842-52263892	LNCaP	prostate:	n/a
14	chr19:52264429-52264479	Hela-S3	cervix:	n/a
15	chr19:52262969-52263019	SK-N-SH_RA	brain:	n/a
16	chr19:52262969-52263019	ovcar-3	ovarian:	n/a
17	chr19:52262969-52263019	AG10803	skin:	n/a
18	chr19:52264413-52264463	AoSMC	blood vessel:	n/a
19	chr19:52263842-52263892	GM12891	blood:	n/a
20	chr19:52263842-52263892	HRE	kidney:	n/a
21	chr19:52262969-52263019	ECC-1	luminal epithelium:	n/a
22	chr19:52264429-52264479	AG04450	lung:	fetal
23	chr19:52264429-52264479	NHDF-neo	bronchial:	n/a
24	chr19:52262969-52263019	MCF10A-Er-Src	breast:	n/a
25	chr19:52264411-52264461	NHBE	bronchial:	n/a
26	chr19:52264413-52264463	MCF-7	breast:	n/a
27	chr19:52264429-52264479	LNCaP	prostate:	n/a
28	chr19:52264429-52264479	H1-hESC	embryonic stem cell:	embryo
29	chr19:52263842-52263892	AG09319	gingival:	n/a
30	chr19:52264413-52264463	HL-60	blood:	n/a
31	chr19:52264429-52264479	HCT-116	colon:	n/a
32	chr19:52264411-52264461	Caco-2	colon:	n/a
33	chr19:52262969-52263019	SK-N-SH	brain:	n/a
34	chr19:52264411-52264461	HepG2	liver:	n/a
35	chr19:52264413-52264463	ECC-1	luminal epithelium:	n/a
36	chr19:52262969-52263019	HCT-116	colon:	n/a
37	chr19:52262969-52263019	ProgFib	skin:	n/a
38	chr19:52264411-52264461	AG09309	skin:	n/a
39	chr19:52264413-52264463	SK-N-SH_RA	brain:	n/a
40	chr19:52264413-52264463	Hepatocyte	liver:	n/a
41	chr19:52264413-52264463	AG04450	lung:	fetal
42	chr19:52262969-52263019	CMK	blood:	n/a
43	chr19:52264413-52264463	NT2-D1	testis:	n/a
44	chr19:52264429-52264479	AG09319	gingival:	n/a
45	chr19:52263842-52263892	AG04449	skin:	fetal
46	chr19:52264429-52264479	NH-A	brain:	n/a
47	chr19:52264411-52264461	NB4	blood:	n/a
48	chr19:52264429-52264479	Jurkat	blood:	n/a
49	chr19:52262969-52263019	NH-A	brain:	n/a
50	chr19:52264429-52264479	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52264566..52267681-chr19:52268997..52272339,3	K562	blood:

No data

Variant related genes	Relation type
FPR2	TF binding region
FPR2	CpG island
ENSG00000171049	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573022358	chr19:52262558-52262559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12983870	chr19:52262613-52262614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559443802	chr19:52262615-52262616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71306103	chr19:52262625-52262626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533360135	chr19:52262632-52262633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190232455	chr19:52262652-52262653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563758037	chr19:52262660-52262661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199813978	chr19:52262677-52262678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112130780	chr19:52262772-52262773	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531148894	chr19:52262777-52262778	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs367812455	chr19:52262827-52262828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567969285	chr19:52262830-52262831	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181433915	chr19:52262833-52262834	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547266239	chr19:52262840-52262841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201641647	chr19:52262877-52262878	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143288089	chr19:52262882-52262883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570635377	chr19:52262883-52262884	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577710932	chr19:52262896-52262897	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186343712	chr19:52262920-52262921	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75504844	chr19:52262952-52262953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs150583702	chr19:52263021-52263022	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573403845	chr19:52263058-52263059	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs115937090	chr19:52263135-52263136	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536059035	chr19:52263148-52263149	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139945138	chr19:52263149-52263150	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11666254	chr19:52263162-52263163	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs80148156	chr19:52263182-52263183	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs78234165	chr19:52263186-52263187	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs189184003	chr19:52263215-52263216	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs74875151	chr19:52263269-52263270	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577986907	chr19:52263280-52263281	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7248161	chr19:52263292-52263293	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs143367287	chr19:52263308-52263309	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs539908712	chr19:52263318-52263319	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs377150520	chr19:52263368-52263369	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs180737985	chr19:52263399-52263400	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112292101	chr19:52263401-52263402	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377406985	chr19:52263426-52263427	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs559802266	chr19:52263429-52263430	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528588725	chr19:52263445-52263446	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs114200169	chr19:52263448-52263449	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs386810390	chr19:52263452-52263453	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs145919569	chr19:52263460-52263461	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs568400741	chr19:52263463-52263464	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs550129195	chr19:52263467-52263468	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs10853842	chr19:52263486-52263487	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562985517	chr19:52263529-52263530	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs535899534	chr19:52263535-52263536	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs139625142	chr19:52263541-52263542	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs566590215	chr19:52263567-52263568	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52259000-52269800	Weak transcription	K562	blood
2	chr19:52260400-52263000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr19:52260400-52263000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:52260400-52263000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr19:52263000-52263200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:52263000-52263200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:52263000-52264200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:52263200-52263400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:52263200-52266400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:52263400-52263800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr19:52263600-52263800	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:52263600-52264000	Enhancers	Primary B cells from cord blood	blood
13	chr19:52263800-52264400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr19:52263800-52264400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:52263800-52265000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr19:52263800-52265400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:52264000-52264400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr19:52264000-52264400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:52264000-52264600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr19:52264000-52264600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr19:52264000-52264600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr19:52264000-52264800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:52264000-52264800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr19:52264000-52268400	Active TSS	Primary B cells from cord blood	blood
25	chr19:52264200-52264400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:52264200-52264600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr19:52264200-52264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:52264200-52265400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr19:52264400-52264800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr19:52264400-52264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:52264800-52265400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr19:52265000-52265200	Enhancers	Primary hematopoietic stem cells	blood
33	chr19:52265200-52265800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr19:52265400-52265800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr19:52265400-52265800	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr19:52265400-52266600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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