Variant report

Variant	esv1823979
Chromosome Location	chr19:56264673-56307596
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	CEBPB	chr19:56303064-56303264	K562	blood:	n/a	chr19:56303175-56303186 chr19:56303172-56303189
2	CEBPB	chr19:56268023-56268280	A549	lung:	n/a	chr19:56268130-56268143
3	CEBPB	chr19:56268125-56268161	Hela-S3	cervix:	n/a	chr19:56268130-56268143
4	CEBPB	chr19:56306160-56306187	Hela-S3	cervix:	n/a	chr19:56306161-56306174 chr19:56306161-56306172
5	CEBPB	chr19:56267971-56268186	K562	blood:	n/a	chr19:56268130-56268143
6	CEBPB	chr19:56306047-56306327	HepG2	liver:	n/a	chr19:56306161-56306174 chr19:56306161-56306172
7	CEBPB	chr19:56303101-56303314	HepG2	liver:	n/a	chr19:56303175-56303186 chr19:56303172-56303189
8	CEBPB	chr19:56303142-56303233	A549	lung:	n/a	chr19:56303175-56303186 chr19:56303172-56303189
9	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
10	CTCF	chr19:56289060-56289210	HEK293	kidney:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
11	CTCF	chr19:56289020-56289170	NB4	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
12	CTCF	chr19:56288978-56289198	H1-hESC	embryonic stem cell:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
13	CTCF	chr19:56295051-56295106	GM13976	blood:	n/a	n/a
14	CTCF	chr19:56289022-56289242	Medullo	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
15	CTCF	chr19:56283229-56283313	GM10266	blood:	n/a	n/a
16	CTCF	chr19:56289021-56289195	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
17	CTCF	chr19:56289020-56289170	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
18	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
19	CTCF	chr19:56289100-56289250	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
20	CTCF	chr19:56289060-56289210	WERI-Rb-1	eye:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
21	CTCF	chr19:56288923-56289360	MCF-7	breast:	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	chr19:56289028-56289202	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
24	CTCF	chr19:56289014-56289235	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
25	CTCF	chr19:56289200-56289350	Caco-2	colon:	n/a	n/a
26	CTCF	chr19:56289060-56289210	GM12870	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
27	CTCF	chr19:56289040-56289190	GM12865	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
28	CTCF	chr19:56289054-56289209	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
29	CTCF	chr19:56288980-56289130	GM12869	blood:	n/a	n/a
30	CTCF	chr19:56270569-56270612	GM13976	blood:	n/a	n/a
31	CTCF	chr19:56289010-56289226	GM12878	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
32	CTCF	chr19:56289100-56289250	GM12865	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
33	CTCF	chr19:56288905-56289243	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
34	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
35	CTCF	chr19:56289080-56289230	Hela-S3	cervix:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
36	CTCF	chr19:56289112-56289128	Fibrobl	skin:	n/a	n/a
37	CTCF	chr19:56288904-56289278	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
38	CTCF	chr19:56289000-56289150	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
39	CTCF	chr19:56289060-56289210	GM06990	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
40	CTCF	chr19:56289023-56289250	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
41	CTCF	chr19:56289060-56289210	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
42	CTCF	chr19:56289017-56289231	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
43	CTCF	chr19:56288886-56289225	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
44	CTCF	chr19:56289080-56289230	HCT-116	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
45	CTCF	chr19:56289056-56289268	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
46	CTCF	chr19:56289028-56289145	GM12891	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
47	CTCF	chr19:56289000-56289247	Gliobla	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
48	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
49	CTCF	chr19:56289001-56289234	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
50	CTCF	chr19:56289042-56289205	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56269259-56269309	AG09309	skin:	n/a
2	chr19:56270498-56270548	PANC-1	pancreas:	n/a
3	chr19:56274428-56274478	HCT-116	colon:	n/a
4	chr19:56269246-56269296	HRE	kidney:	n/a
5	chr19:56269246-56269296	HNPCEpiC	eye:	n/a
6	chr19:56270498-56270548	HRPEpiC	eye:	n/a
7	chr19:56269259-56269309	PFSK-1	brain:	n/a
8	chr19:56270498-56270548	MCF10A-Er-Src	breast:	n/a
9	chr19:56274428-56274478	HMEC	breast:	n/a
10	chr19:56270729-56270779	AG09319	gingival:	n/a
11	chr19:56270498-56270548	GM12891	blood:	n/a
12	chr19:56274428-56274478	GM12891	blood:	n/a
13	chr19:56269259-56269309	H1-hESC	embryonic stem cell:	embryo
14	chr19:56270729-56270779	Caco-2	colon:	n/a
15	chr19:56270729-56270779	AG09309	skin:	n/a
16	chr19:56270498-56270548	IMR90	lung:	fetal
17	chr19:56269246-56269296	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:56269259-56269309	K562	blood:	n/a
19	chr19:56269259-56269309	IMR90	lung:	fetal
20	chr19:56269259-56269309	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:56269259-56269309	GM12891	blood:	n/a
22	chr19:56270729-56270779	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:56274428-56274478	HCM	heart:	n/a
24	chr19:56269259-56269309	NT2-D1	testis:	n/a
25	chr19:56270498-56270548	HAEpiC	amniotic membrane:	n/a
26	chr19:56269259-56269309	SAEC	small airway:	n/a
27	chr19:56274428-56274478	K562	blood:	n/a
28	chr19:56270729-56270779	A549	lung:	n/a
29	chr19:56274428-56274478	GM06990	blood:	n/a
30	chr19:56270498-56270548	Jurkat	blood:	n/a
31	chr19:56270498-56270548	HMEC	breast:	n/a
32	chr19:56270729-56270779	HUVEC	blood vessel:	n/a
33	chr19:56274428-56274478	HepG2	liver:	n/a
34	chr19:56269259-56269309	SK-N-SH_RA	brain:	n/a
35	chr19:56270729-56270779	NH-A	brain:	n/a
36	chr19:56270498-56270548	AoSMC	blood vessel:	n/a
37	chr19:56270498-56270548	AG04450	lung:	fetal
38	chr19:56274428-56274478	NT2-D1	testis:	n/a
39	chr19:56269246-56269296	PANC-1	pancreas:	n/a
40	chr19:56269246-56269296	ProgFib	skin:	n/a
41	chr19:56270729-56270779	Jurkat	blood:	n/a
42	chr19:56270729-56270779	AG10803	skin:	n/a
43	chr19:56269246-56269296	MCF-7	breast:	n/a
44	chr19:56269259-56269309	CMK	blood:	n/a
45	chr19:56274428-56274478	HRE	kidney:	n/a
46	chr19:56270729-56270779	SK-N-MC	brain:	n/a
47	chr19:56270729-56270779	HEK293	kidney:	embryo
48	chr19:56270498-56270548	SKMC	muscle:	n/a
49	chr19:56274428-56274478	U87	brain:	n/a
50	chr19:56270729-56270779	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
2	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
3	chr19:56294175..56296046-chr19:56307232..56309273,2	MCF-7	breast:
4	chr17:41464575..41466240-chr19:56288867..56290367,2	K562	blood:
5	chr19:56288962..56289563-chr19:56320651..56321410,3	MCF-7	breast:
6	chr19:56294175..56296046-chr19:56307232..56309273,2	MCF-7	breast:

Variant related genes	Relation type
RFPL4AL1	TF binding region
RFPL4AP1	TF binding region
RFPL4A	TF binding region
RFPL4AL1	CpG island
RFPL4AP1	CpG island
RFPL4A	CpG island
ENSG00000188825	chromatin interactions

Extended variants
information (count: 1081 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184924614	chr19:56264695-56264696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529138402	chr19:56264697-56264698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538627791	chr19:56264716-56264717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377731929	chr19:56264744-56264745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74419760	chr19:56264811-56264812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34837325	chr19:56264818-56264819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386389299	chr19:56264833-56264834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376868498	chr19:56264834-56264835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546125296	chr19:56264836-56264837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369229271	chr19:56264837-56264838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57710529	chr19:56264849-56264850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74179636	chr19:56264850-56264851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143044120	chr19:56264869-56264870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73933326	chr19:56264884-56264885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144677097	chr19:56264977-56264978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115133371	chr19:56264983-56264984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111482761	chr19:56265013-56265014	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189778113	chr19:56265074-56265075	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34047470	chr19:56265091-56265092	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537119347	chr19:56265096-56265097	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556806436	chr19:56265120-56265121	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73055904	chr19:56265121-56265122	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536488226	chr19:56265132-56265133	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371149632	chr19:56265144-56265145	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553248027	chr19:56265165-56265166	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376628600	chr19:56265169-56265170	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12460887	chr19:56265195-56265196	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533568271	chr19:56265203-56265204	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182434812	chr19:56265204-56265205	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148496136	chr19:56265205-56265206	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554064513	chr19:56265206-56265207	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558884325	chr19:56265217-56265218	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575578302	chr19:56265277-56265278	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142876336	chr19:56265373-56265374	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561267633	chr19:56265391-56265392	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529100428	chr19:56265393-56265394	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187110494	chr19:56265420-56265421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559594582	chr19:56265426-56265427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57963573	chr19:56265476-56265477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35370140	chr19:56265502-56265503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571199256	chr19:56265534-56265535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572910825	chr19:56265557-56265558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370330819	chr19:56265580-56265581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540345493	chr19:56265597-56265598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17634917	chr19:56265664-56265665	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	disease
46	rs567069693	chr19:56265684-56265685	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535945096	chr19:56265696-56265697	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553117017	chr19:56265709-56265710	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80063101	chr19:56265714-56265715	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538925233	chr19:56265754-56265755	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	20409316	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56264400-56265000	Enhancers	Liver	Liver
2	chr19:56264800-56265600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr19:56265000-56265400	Flanking Active TSS	Liver	Liver
4	chr19:56265000-56266000	Enhancers	Pancreas	Pancrea
5	chr19:56265400-56265600	Enhancers	Liver	Liver
6	chr19:56265400-56265800	Enhancers	Gastric	stomach
7	chr19:56265600-56265800	Flanking Active TSS	Liver	Liver
8	chr19:56265800-56268200	Weak transcription	Liver	Liver
9	chr19:56266000-56266800	Weak transcription	Pancreas	Pancrea
10	chr19:56266800-56267000	Enhancers	Pancreas	Pancrea
11	chr19:56267000-56268200	Weak transcription	Pancreas	Pancrea
12	chr19:56268000-56269800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:56268200-56268400	ZNF genes & repeats	Liver	Liver
14	chr19:56268200-56268400	Enhancers	Pancreas	Pancrea
15	chr19:56268400-56272600	Weak transcription	Liver	Liver
16	chr19:56269800-56270200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr19:56270200-56271800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr19:56272600-56272800	Active TSS	Liver	Liver
19	chr19:56277000-56279600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr19:56278000-56278200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr19:56279600-56280000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:56293200-56293400	Enhancers	Hela-S3	cervix
25	chr19:56295400-56295600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
26	chr19:56300600-56304000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:56306200-56310800	Weak transcription	Pancreas	Pancrea
28	chr19:56307400-56313400	Weak transcription	Liver	Liver

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