Variant report

Variant	esv3351175
Chromosome Location	chr19:52258817-52261248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:52259740-52259916	NB4	blood:	n/a	n/a
2	MAX	chr19:52259639-52259895	K562	blood:	n/a	n/a
3	POLR2A	chr19:52258607-52259285	K562	blood:	n/a	n/a
4	POLR2A	chr19:52259711-52261258	K562	blood:	n/a	n/a

Variant related genes	Relation type
FPR1	TF binding region
FPR2	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558878222	chr19:52258821-52258822	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570866225	chr19:52258828-52258829	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190584709	chr19:52258844-52258845	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs556229868	chr19:52258853-52258854	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182759335	chr19:52258857-52258858	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs187310356	chr19:52258858-52258859	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554065277	chr19:52258859-52258860	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572662466	chr19:52258863-52258864	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs143539720	chr19:52258885-52258886	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs564060948	chr19:52258890-52258891	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs192756457	chr19:52258898-52258899	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543585123	chr19:52258902-52258903	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537513137	chr19:52258912-52258913	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs555850269	chr19:52258928-52258929	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575746043	chr19:52258939-52258940	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542898130	chr19:52258947-52258948	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561754000	chr19:52258974-52258975	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111530129	chr19:52258996-52258997	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547589452	chr19:52259013-52259014	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565852676	chr19:52259024-52259025	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533214346	chr19:52259045-52259046	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs369833577	chr19:52259057-52259058	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147162078	chr19:52259068-52259069	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs111472346	chr19:52259102-52259103	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570872639	chr19:52259131-52259132	Enhancers Flanking Active TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs140324313	chr19:52259165-52259166	Enhancers Flanking Active TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs544901791	chr19:52259196-52259197	Enhancers Flanking Active TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs144196764	chr19:52259220-52259221	Enhancers Flanking Active TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs150808299	chr19:52259259-52259260	Enhancers Flanking Active TSS Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs554299182	chr19:52259294-52259295	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572651533	chr19:52259295-52259296	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199663462	chr19:52259346-52259347	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540170723	chr19:52259395-52259396	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558155231	chr19:52259423-52259424	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540606914	chr19:52259432-52259433	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73577345	chr19:52259478-52259479	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113776015	chr19:52259526-52259527	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184865629	chr19:52259532-52259533	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563695065	chr19:52259551-52259552	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11667868	chr19:52259571-52259572	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs544673444	chr19:52259592-52259593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550366008	chr19:52259642-52259643	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs532980996	chr19:52259653-52259654	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs115171859	chr19:52259691-52259692	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs75346747	chr19:52259711-52259712	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs187724218	chr19:52259712-52259713	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs549730503	chr19:52259771-52259772	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs373210712	chr19:52259777-52259778	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs568221478	chr19:52259805-52259806	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs145011058	chr19:52259811-52259812	Enhancers Weak transcription	TF binding region	2 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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52255200-52259600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:52255800-52260400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:52258600-52259000	Enhancers	K562	blood
4	chr19:52258800-52260400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr19:52259000-52269800	Weak transcription	K562	blood
6	chr19:52259600-52260400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr19:52260400-52263000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:52260400-52263000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr19:52260400-52263000	Weak transcription	Monocytes-CD14+_RO01746	blood

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