Variant report

Variant	nsv514904
Chromosome Location	chr19:56280636-56289564
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	CTCF	chr19:56289000-56289150	Caco-2	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
2	CTCF	chr19:56288905-56289243	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
3	CTCF	chr19:56288923-56289360	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
4	CTCF	chr19:56289001-56289234	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
5	CTCF	chr19:56288980-56289130	GM12869	blood:	n/a	n/a
6	CTCF	chr19:56289042-56289205	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
7	CTCF	chr19:56289080-56289230	Hela-S3	cervix:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
8	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
9	CTCF	chr19:56289030-56289200	H1-hESC	embryonic stem cell:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
10	CTCF	chr19:56289060-56289210	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
11	CTCF	chr19:56288904-56289278	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
12	CTCF	chr19:56289080-56289230	GM06990	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
13	CTCF	chr19:56288833-56289365	HCT-116	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
14	CTCF	chr19:56289028-56289202	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
15	CTCF	chr19:56289022-56289242	Medullo	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
16	CTCF	chr19:56289054-56289209	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
17	CTCF	chr19:56289060-56289210	AG09309	skin:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
18	CTCF	chr19:56288980-56289130	GM12867	blood:	n/a	n/a
19	CTCF	chr19:56289100-56289250	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
20	CTCF	chr19:56289060-56289210	BE2_C	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
21	CTCF	chr19:56289014-56289235	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
22	CTCF	chr19:56289066-56289201	Pancreas_OC	pancreas:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
23	CTCF	chr19:56289017-56289231	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
24	CTCF	chr19:56289000-56289150	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
25	CTCF	chr19:56289040-56289190	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
26	CTCF	chr19:56289064-56289192	LNCaP	prostate:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
27	CTCF	chr19:56289060-56289210	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
28	CTCF	chr19:56289000-56289247	Gliobla	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
29	CTCF	chr19:56289060-56289210	GM12870	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
30	CTCF	chr19:56288978-56289198	H1-hESC	embryonic stem cell:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
31	CTCF	chr19:56289100-56289250	BE2_C	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
32	CTCF	chr19:56288909-56289323	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
33	CTCF	chr19:56289040-56289190	Caco-2	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
34	CTCF	chr19:56289040-56289190	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
35	CTCF	chr19:56289080-56289230	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
36	CTCF	chr19:56289028-56289145	GM12891	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
37	CTCF	chr19:56289080-56289230	HCT-116	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
38	CTCF	chr19:56289040-56289190	HEK293	kidney:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
39	CTCF	chr19:56289019-56289217	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
40	CTCF	chr19:56289080-56289230	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
41	CTCF	chr19:56289100-56289250	GM12865	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
42	CTCF	chr19:56289100-56289250	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
43	CTCF	chr19:56289040-56289190	WERI-Rb-1	eye:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
44	CTCF	chr19:56289112-56289128	Fibrobl	skin:	n/a	n/a
45	CTCF	chr19:56289040-56289190	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
46	CTCF	chr19:56288980-56289130	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr19:56289050-56289163	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
48	CTCF	chr19:56289020-56289170	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
49	CTCF	chr19:56289021-56289195	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
50	CTCF	chr19:56289056-56289268	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139

No.	Distal block	Cell Line	Cell type
1	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
2	chr19:56288962..56289563-chr19:56320651..56321410,3	MCF-7	breast:
3	chr17:41464575..41466240-chr19:56288867..56290367,2	K562	blood:

Variant related genes	Relation type
RFPL4AP1	TF binding region
ENSG00000188825	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563125227	chr19:56280642-56280643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528928553	chr19:56280643-56280644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1820104	chr19:56280674-56280675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544929869	chr19:56280675-56280676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528187374	chr19:56280677-56280678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557131370	chr19:56280695-56280696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551532861	chr19:56280696-56280697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575314388	chr19:56280718-56280719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571537061	chr19:56280754-56280755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542732040	chr19:56280764-56280765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61348958	chr19:56280766-56280767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531095991	chr19:56280790-56280791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4405651	chr19:56280791-56280792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567552225	chr19:56280806-56280807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536604239	chr19:56280819-56280820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553103360	chr19:56280820-56280821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566938339	chr19:56280824-56280825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539162070	chr19:56280843-56280844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557967332	chr19:56280847-56280848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577949293	chr19:56280866-56280867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201374745	chr19:56280868-56280869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543345940	chr19:56280892-56280893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61620824	chr19:56280912-56280913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397958216	chr19:56280922-56280923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397833380	chr19:56280953-56280954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557174200	chr19:56280956-56280957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573860299	chr19:56280969-56280970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542574198	chr19:56280973-56280974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1895379	chr19:56280980-56280981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2431834	chr19:56281001-56281002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544739019	chr19:56281025-56281026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7258649	chr19:56281045-56281046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531185289	chr19:56281063-56281064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550899958	chr19:56281075-56281076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561588786	chr19:56281100-56281101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7258447	chr19:56281110-56281111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546991973	chr19:56281111-56281112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566904052	chr19:56281169-56281170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539123149	chr19:56281207-56281208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113226022	chr19:56281241-56281242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2547279	chr19:56281260-56281261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139260731	chr19:56281268-56281269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569376854	chr19:56281275-56281276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537209995	chr19:56281282-56281283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556892201	chr19:56281283-56281284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140614030	chr19:56281288-56281289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374578628	chr19:56281291-56281292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187742665	chr19:56281301-56281302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114882950	chr19:56281324-56281325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552537484	chr19:56281346-56281347	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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