Variant report

Variant	esv3340459
Chromosome Location	chr19:51775690-51777763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:51775798-51775854	K562	blood:	n/a	n/a
2	ARID3A	chr19:51777544-51777593	HepG2	liver:	n/a	n/a
3	BACH1	chr19:51775820-51775966	K562	blood:	n/a	n/a
4	BACH1	chr19:51775704-51776045	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr19:51777372-51777488	K562	blood:	n/a	n/a
6	CTCF	chr19:51775820-51775948	Gliobla	brain:	n/a	n/a
7	CTCF	chr19:51775899-51775926	NHEK	skin:	n/a	n/a
8	CTCF	chr19:51775882-51775926	MCF-7	breast:	n/a	n/a
9	CTCF	chr19:51775907-51775909	MCF-7	breast:	n/a	n/a
10	CTCF	chr19:51775930-51775935	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr19:51775867-51775899	MCF-7	breast:	n/a	n/a
12	CTCF	chr19:51775860-51775923	GM19239	blood:	n/a	n/a
13	CTCF	chr19:51775848-51775887	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:51775852-51775905	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr19:51775913-51775932	K562	blood:	n/a	n/a
16	CTCF	chr19:51775844-51775929	Hela-S3	cervix:	n/a	n/a
17	E2F4	chr19:51775709-51776045	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr19:51775818-51775990	K562	blood:	n/a	n/a
19	MAFF	chr19:51777531-51777939	HepG2	liver:	n/a	chr19:51777797-51777815
20	MAFF	chr19:51775729-51776051	K562	blood:	n/a	n/a
21	MAFF	chr19:51777575-51777968	K562	blood:	n/a	chr19:51777797-51777815
22	MAFK	chr19:51775888-51775892	HepG2	liver:	n/a	n/a
23	MAFK	chr19:51775780-51776047	K562	blood:	n/a	chr19:51775901-51775916
24	MAFK	chr19:51777591-51777940	IMR90	lung:	n/a	n/a
25	MAFK	chr19:51775697-51776099	H1-hESC	embryonic stem cell:	n/a	chr19:51775901-51775916
26	MAFK	chr19:51777672-51777965	K562	blood:	n/a	n/a
27	MAFK	chr19:51777738-51777976	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr19:51777474-51777977	HepG2	liver:	n/a	n/a
29	MAFK	chr19:51777647-51777963	HepG2	liver:	n/a	n/a
30	MAFK	chr19:51775829-51775950	HepG2	liver:	n/a	chr19:51775901-51775916
31	MAX	chr19:51776820-51778083	A549	lung:	n/a	n/a
32	POLR2A	chr19:51777562-51777597	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr19:51775714-51775955	K562	blood:	n/a	n/a
34	SPI1	chr19:51775604-51776432	HL-60	blood:	n/a	chr19:51776218-51776231
35	YY1	chr19:51775720-51776001	GM12878	blood:	n/a	n/a
36	YY1	chr19:51775764-51775979	GM12892	blood:	n/a	n/a
37	YY1	chr19:51775700-51776014	GM12878	blood:	n/a	n/a
38	YY1	chr19:51775770-51775972	K562	blood:	n/a	n/a
39	YY1	chr19:51775773-51775974	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51773741..51777453-chr19:51777485..51780529,3	K562	blood:
2	chr19:51770888..51773726-chr19:51775825..51777713,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf75-2	chr19:51777763-51777795	NONHSAT067429

No data

Variant related genes	Relation type
ENSG00000268595	TF binding region
ENSG00000268595	chromatin interactions
ENSG00000268318	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74981951	chr19:51775710-51775711	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12972888	chr19:51775714-51775715	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12972903	chr19:51775738-51775739	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182321920	chr19:51775765-51775766	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186881459	chr19:51775797-51775798	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533181340	chr19:51775808-51775809	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148055747	chr19:51775822-51775823	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143655963	chr19:51775850-51775851	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs8111393	chr19:51775876-51775877	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548749097	chr19:51775928-51775929	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs34500256	chr19:51775937-51775938	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543949340	chr19:51775954-51775955	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs564160786	chr19:51775955-51775956	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs117360766	chr19:51775984-51775985	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77726435	chr19:51775997-51775998	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531313987	chr19:51776040-51776041	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538882170	chr19:51776111-51776112	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs8111074	chr19:51776117-51776118	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs8111753	chr19:51776137-51776138	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs8110859	chr19:51776162-51776163	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554728737	chr19:51776222-51776223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs8111217	chr19:51776229-51776230	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540233256	chr19:51776253-51776254	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs61291364	chr19:51776268-51776269	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs559698496	chr19:51776327-51776328	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs73932898	chr19:51776376-51776377	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548026878	chr19:51776399-51776400	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531284181	chr19:51776428-51776429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563468791	chr19:51776439-51776440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530561321	chr19:51776456-51776457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191712273	chr19:51776464-51776465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560794317	chr19:51776465-51776466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528104675	chr19:51776517-51776518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551222747	chr19:51776668-51776669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536152253	chr19:51776690-51776691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58738030	chr19:51776719-51776720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs59526361	chr19:51776757-51776758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374110193	chr19:51776837-51776838	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571636763	chr19:51776890-51776891	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs375683527	chr19:51776902-51776903	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538945990	chr19:51776910-51776911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183055678	chr19:51776911-51776912	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536401792	chr19:51776935-51776936	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368074532	chr19:51776955-51776956	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs555064567	chr19:51777010-51777011	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370148449	chr19:51777062-51777063	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs73613991	chr19:51777078-51777079	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368877243	chr19:51777141-51777142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs187007168	chr19:51777229-51777230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138790036	chr19:51777323-51777324	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51770400-51777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:51773800-51776400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr19:51774000-51776000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:51774200-51776400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:51774600-51785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:51775200-51775800	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:51775200-51776000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:51775200-51776400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:51775200-51776400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:51775400-51775800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr19:51775400-51776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:51775600-51775800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr19:51775600-51776000	Enhancers	K562	blood
14	chr19:51775600-51776400	Enhancers	A549	lung
15	chr19:51775800-51776000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr19:51775800-51776000	Enhancers	Right Atrium	heart
17	chr19:51776000-51777600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:51776000-51781000	Weak transcription	K562	blood
19	chr19:51776400-51776800	Weak transcription	A549	lung
20	chr19:51776800-51777200	Enhancers	A549	lung
21	chr19:51776800-51778000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr19:51777200-51777400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr19:51777200-51777400	Bivalent Enhancer	HepG2	liver
24	chr19:51777200-51777800	Flanking Active TSS	A549	lung
25	chr19:51777200-51778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:51777400-51777800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:51777400-51777800	Enhancers	HepG2	liver
28	chr19:51777400-51778400	Weak transcription	H9 Cell Line	embryonic stem cell

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