Variant report

Variant	esv3404778
Chromosome Location	chr19:21754412-21758710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21756597-21757002	K562	blood:	n/a	n/a
2	ATF1	chr19:21756594-21757067	K562	blood:	n/a	n/a
3	ATF3	chr19:21756520-21757045	K562	blood:	n/a	n/a
4	BHLHE40	chr19:21756673-21757583	K562	blood:	n/a	n/a
5	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
6	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
7	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
8	CEBPB	chr19:21756463-21757311	K562	blood:	n/a	n/a
9	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
10	CREB1	chr19:21756465-21757280	K562	blood:	n/a	n/a
11	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
12	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
13	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
14	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
15	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
16	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
17	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
18	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
19	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
20	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
21	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
22	JUN	chr19:21756645-21757073	K562	blood:	n/a	n/a
23	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
24	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
25	JUN	chr19:21756642-21756999	K562	blood:	n/a	n/a
26	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628
27	JUN	chr19:21756635-21757045	K562	blood:	n/a	n/a
28	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
29	JUND	chr19:21757443-21757767	HepG2	liver:	n/a	n/a
30	JUND	chr19:21755289-21755574	HepG2	liver:	n/a	n/a
31	JUND	chr19:21756650-21756946	HepG2	liver:	n/a	chr19:21756822-21756833
32	JUND	chr19:21756547-21757438	K562	blood:	n/a	chr19:21756822-21756833
33	MAFF	chr19:21756642-21756954	K562	blood:	n/a	n/a
34	MAFK	chr19:21756634-21756959	K562	blood:	n/a	n/a
35	MAX	chr19:21756655-21757093	K562	blood:	n/a	n/a
36	MAZ	chr19:21756640-21757069	K562	blood:	n/a	n/a
37	MXI1	chr19:21756700-21756890	K562	blood:	n/a	n/a
38	MYC	chr19:21756635-21757024	K562	blood:	n/a	n/a
39	NFYB	chr19:21754902-21755156	K562	blood:	n/a	n/a
40	RCOR1	chr19:21756569-21757055	K562	blood:	n/a	n/a
41	RFX5	chr19:21757948-21758046	K562	blood:	n/a	n/a
42	STAT5A	chr19:21756625-21756980	K562	blood:	n/a	n/a
43	TAL1	chr19:21756742-21756928	K562	blood:	n/a	n/a
44	TBL1XR1	chr19:21756569-21757048	K562	blood:	n/a	n/a
45	TBL1XR1	chr19:21756792-21757020	K562	blood:	n/a	n/a
46	TEAD4	chr19:21756606-21757057	K562	blood:	n/a	n/a
47	TEAD4	chr19:21756560-21757171	K562	blood:	n/a	n/a
48	UBTF	chr19:21756856-21756903	K562	blood:	n/a	n/a
49	ZBTB7A	chr19:21756803-21757059	K562	blood:	n/a	n/a
50	ZC3H11A	chr19:21756575-21756931	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 285 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112553623	chr19:21754421-21754422	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113305750	chr19:21754430-21754431	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570852257	chr19:21754455-21754456	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112053106	chr19:21754481-21754482	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76615922	chr19:21754502-21754503	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77713340	chr19:21754506-21754507	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201111293	chr19:21754510-21754511	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76129453	chr19:21754523-21754524	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536131338	chr19:21754570-21754571	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36050860	chr19:21754575-21754576	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541769685	chr19:21754578-21754579	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62110202	chr19:21754601-21754602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs540436524	chr19:21754602-21754603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575243022	chr19:21754624-21754625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558879868	chr19:21754632-21754633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577257128	chr19:21754657-21754658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544572478	chr19:21754662-21754663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79380069	chr19:21754752-21754753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77804195	chr19:21754755-21754756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6511268	chr19:21754767-21754768	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs560223107	chr19:21754769-21754770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527872178	chr19:21754770-21754771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552402638	chr19:21754773-21754774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78432730	chr19:21754782-21754783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79191540	chr19:21754786-21754787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182681626	chr19:21754828-21754829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35678983	chr19:21754857-21754858	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34475475	chr19:21754897-21754898	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564409561	chr19:21754902-21754903	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547935091	chr19:21754903-21754904	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34806732	chr19:21754918-21754919	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs78300019	chr19:21754938-21754939	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs386807809	chr19:21754950-21754951	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs75816198	chr19:21754957-21754958	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs35147475	chr19:21754959-21754960	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577892565	chr19:21754968-21754969	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544936798	chr19:21754985-21754986	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111663179	chr19:21754986-21754987	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556426927	chr19:21754999-21755000	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75083873	chr19:21755027-21755028	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs73550355	chr19:21755034-21755035	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs80218250	chr19:21755042-21755043	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs75788756	chr19:21755046-21755047	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs75490690	chr19:21755047-21755048	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201377786	chr19:21755050-21755051	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs564303318	chr19:21755070-21755071	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs531951885	chr19:21755085-21755086	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550159301	chr19:21755119-21755120	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562411888	chr19:21755120-21755121	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs34713529	chr19:21755153-21755154	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:38)

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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752600-21756600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:21752800-21754600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:21752800-21755400	Weak transcription	Right Ventricle	heart
5	chr19:21752800-21755800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
7	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
8	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21753400-21754600	Genic enhancers	Dnd41	blood
10	chr19:21753600-21756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:21754600-21757800	Strong transcription	Dnd41	blood
12	chr19:21756400-21757600	Enhancers	K562	blood
13	chr19:21756600-21756800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:21756800-21757000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:21756800-21757000	ZNF genes & repeats	Pancreas	Pancrea
16	chr19:21756800-21757400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:21756800-21762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:21757000-21764400	Weak transcription	Pancreas	Pancrea
19	chr19:21757400-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:21757800-21759400	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links