Variant report

Variant	esv3441119
Chromosome Location	chr19:52756399-52762539
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	ARID3A	chr19:52759742-52759798	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:52759789-52759790	K562	blood:	n/a	n/a
3	CTCF	chr19:52759654-52759862	HepG2	liver:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
4	CTCF	chr19:52759752-52759822	A549	lung:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
5	CTCF	chr19:52759740-52759890	HFF	foreskin:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
6	CTCF	chr19:52759680-52759830	SAEC	small airway:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
7	CTCF	chr19:52759640-52759790	HVMF	connective:	n/a	n/a
8	CTCF	chr19:52759660-52759810	HEK293	kidney:	n/a	n/a
9	CTCF	chr19:52759723-52759861	MCF-7	breast:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
10	CTCF	chr19:52759720-52759870	HMF	breast:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
11	CTCF	chr19:52759636-52759984	K562	blood:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
12	CTCF	chr19:52759646-52759952	K562	blood:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
13	CTCF	chr19:52759720-52759882	Medullo	brain:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
14	CTCF	chr19:52759680-52759830	HBMEC	blood vessel:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
15	CTCF	chr19:52759700-52759850	Hela-S3	cervix:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
16	CTCF	chr19:52759720-52759870	HCFaa	heart:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
17	CTCF	chr19:52759582-52759917	MCF-7	breast:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
18	CTCF	chr19:52759726-52759837	SK-N-SH_RA	brain:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
19	CTCF	chr19:52759768-52759851	LNCaP	prostate:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
20	CTCF	chr19:52759729-52759843	HUVEC	blood vessel:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
21	CTCF	chr19:52759741-52759859	ProgFib	skin:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
22	CTCF	chr19:52759661-52759841	A549	lung:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
23	CTCF	chr19:52759742-52759865	H1-hESC	embryonic stem cell:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
24	CTCF	chr19:52759720-52759870	GM06990	blood:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
25	CTCF	chr19:52759700-52759850	HMEC	breast:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
26	CTCF	chr19:52759700-52759850	HEK293	kidney:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
27	CTCF	chr19:52759700-52759850	BJ	skin:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
28	CTCF	chr19:52759780-52759930	SK-N-SH_RA	brain:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
29	CTCF	chr19:52759766-52759852	GM12878	blood:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
30	CTCF	chr19:52759700-52759850	NHEK	skin:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
31	CTCF	chr19:52759712-52759882	Hela-S3	cervix:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
32	CTCF	chr19:52759640-52759790	A549	lung:	n/a	n/a
33	CTCF	chr19:52759680-52759830	HEEpiC	esophagus:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
34	CTCF	chr19:52759412-52760068	A549	lung:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
35	CTCF	chr19:52759680-52759900	K562	blood:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
36	CTCF	chr19:52759700-52759850	SK-N-SH_RA	brain:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
37	CTCF	chr19:52759680-52759830	HPAF	blood vessel:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
38	CTCF	chr19:52759680-52759830	HUVEC	blood vessel:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
39	CTCF	chr19:52759740-52759890	HCM	heart:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
40	CTCF	chr19:52759600-52759750	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr19:52759700-52759850	K562	blood:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
42	CTCF	chr19:52759740-52759890	HVMF	connective:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
43	CTCF	chr19:52759640-52759790	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:52759754-52759837	MCF-7	breast:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
45	CTCF	chr19:52759740-52759890	HCT-116	colon:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
46	CTCF	chr19:52759640-52759790	WI-38	lung:	n/a	n/a
47	CTCF	chr19:52759728-52759851	Fibrobl	skin:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
48	CTCF	chr19:52759700-52759850	HCT-116	colon:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
49	CTCF	chr19:52759713-52759868	Gliobla	brain:	n/a	chr19:52759799-52759815 chr19:52759793-52759814 chr19:52759798-52759816
50	CTCF	chr19:52759660-52759810	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52642555..52643074-chr19:52759322..52760231,2	K562	blood:

Variant related genes	Relation type
ENSG00000207265	TF binding region
ENSG00000204611	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:267 , 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	rs547073440	chr19:52756399-52756400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565465316	chr19:52756404-52756405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539038108	chr19:52756444-52756445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563037784	chr19:52756449-52756450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373172378	chr19:52756453-52756454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551229669	chr19:52756459-52756460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557342415	chr19:52756495-52756496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576240695	chr19:52756501-52756502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536967675	chr19:52756502-52756503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10407427	chr19:52756506-52756507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536635844	chr19:52756583-52756584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548219200	chr19:52756585-52756586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138365663	chr19:52756594-52756595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184869149	chr19:52756628-52756629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376158957	chr19:52756660-52756661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111951305	chr19:52756698-52756699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553609304	chr19:52756701-52756702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12977240	chr19:52756706-52756707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572611110	chr19:52756708-52756709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533984545	chr19:52756712-52756713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558635063	chr19:52756713-52756714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564323060	chr19:52756748-52756749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12977489	chr19:52756758-52756759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563241951	chr19:52756808-52756809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532001620	chr19:52756819-52756820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576594286	chr19:52756857-52756858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377623968	chr19:52756863-52756864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562440061	chr19:52756875-52756876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529443358	chr19:52756910-52756911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551141217	chr19:52756940-52756941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537665014	chr19:52756943-52756944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547631002	chr19:52757028-52757029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149331115	chr19:52757058-52757059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539150679	chr19:52757099-52757100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556398908	chr19:52757221-52757222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550934881	chr19:52757233-52757234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569566704	chr19:52757241-52757242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537086587	chr19:52757333-52757334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79637589	chr19:52757349-52757350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574675648	chr19:52757457-52757458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541798182	chr19:52757488-52757489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368127325	chr19:52757489-52757490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560234346	chr19:52757525-52757526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144594778	chr19:52757601-52757602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148466462	chr19:52757632-52757633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377073956	chr19:52757651-52757652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553211982	chr19:52757654-52757655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60998301	chr19:52757733-52757734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs145985414	chr19:52757742-52757743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564469716	chr19:52757747-52757748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	21785460	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52733200-52759600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:52758600-52772200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr19:52759600-52759800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:52761400-52761800	Enhancers	HepG2	liver

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