Variant report

Variant	esv1795436
Chromosome Location	chr19:56268019-56285066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:56268125-56268161	Hela-S3	cervix:	n/a	chr19:56268130-56268143
2	CEBPB	chr19:56268023-56268280	A549	lung:	n/a	chr19:56268130-56268143
3	CEBPB	chr19:56267971-56268186	K562	blood:	n/a	chr19:56268130-56268143
4	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
5	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
6	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
7	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
8	CTCF	chr19:56270569-56270612	GM13976	blood:	n/a	n/a
9	CTCF	chr19:56283229-56283313	GM10266	blood:	n/a	n/a
10	E2F4	chr19:56270326-56270356	MCF10A-Er-Src	breast:	n/a	n/a
11	ELF1	chr19:56271182-56271584	K562	blood:	n/a	chr19:56271419-56271432
12	PBX3	chr19:56277927-56278096	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:56284139-56284358	A549	lung:	n/a	n/a
14	POLR2A	chr19:56274116-56274147	A549	lung:	n/a	n/a
15	SPI1	chr19:56277792-56278107	GM12878	blood:	n/a	n/a
16	STAT3	chr19:56276461-56276799	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr19:56267962-56268162	MCF10A-Er-Src	breast:	n/a	chr19:56268133-56268141
18	TBP	chr19:56270440-56270473	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56274428-56274478	BE2_C	brain:	n/a
2	chr19:56270498-56270548	GM12878	blood:	n/a
3	chr19:56269246-56269296	U87	brain:	n/a
4	chr19:56270498-56270548	NT2-D1	testis:	n/a
5	chr19:56269246-56269296	HNPCEpiC	eye:	n/a
6	chr19:56269259-56269309	NHDF-neo	bronchial:	n/a
7	chr19:56274428-56274478	HUVEC	blood vessel:	n/a
8	chr19:56270729-56270779	HIPEpiC	eye:	n/a
9	chr19:56274428-56274478	HCM	heart:	n/a
10	chr19:56269259-56269309	Hepatocyte	liver:	n/a
11	chr19:56270729-56270779	GM12891	blood:	n/a
12	chr19:56274428-56274478	U87	brain:	n/a
13	chr19:56269246-56269296	PFSK-1	brain:	n/a
14	chr19:56270498-56270548	HIPEpiC	eye:	n/a
15	chr19:56270498-56270548	AoSMC	blood vessel:	n/a
16	chr19:56270729-56270779	HCF	heart:	n/a
17	chr19:56269246-56269296	HAEpiC	amniotic membrane:	n/a
18	chr19:56274428-56274478	NB4	blood:	n/a
19	chr19:56274428-56274478	SKMC	muscle:	n/a
20	chr19:56270729-56270779	Hepatocyte	liver:	n/a
21	chr19:56270729-56270779	ProgFib	skin:	n/a
22	chr19:56270498-56270548	BE2_C	brain:	n/a
23	chr19:56269259-56269309	U87	brain:	n/a
24	chr19:56270729-56270779	HRE	kidney:	n/a
25	chr19:56269246-56269296	ovcar-3	ovarian:	n/a
26	chr19:56269246-56269296	AG10803	skin:	n/a
27	chr19:56274428-56274478	HIPEpiC	eye:	n/a
28	chr19:56269246-56269296	HCM	heart:	n/a
29	chr19:56270729-56270779	SKMC	muscle:	n/a
30	chr19:56270498-56270548	HL-60	blood:	n/a
31	chr19:56269259-56269309	SAEC	small airway:	n/a
32	chr19:56270498-56270548	K562	blood:	n/a
33	chr19:56270498-56270548	Jurkat	blood:	n/a
34	chr19:56270729-56270779	BE2_C	brain:	n/a
35	chr19:56274428-56274478	MCF-7	breast:	n/a
36	chr19:56269259-56269309	HCM	heart:	n/a
37	chr19:56269259-56269309	HUVEC	blood vessel:	n/a
38	chr19:56270498-56270548	SKMC	muscle:	n/a
39	chr19:56270729-56270779	HRPEpiC	eye:	n/a
40	chr19:56270729-56270779	A549	lung:	n/a
41	chr19:56269246-56269296	HIPEpiC	eye:	n/a
42	chr19:56269259-56269309	HEEpiC	esophagus:	n/a
43	chr19:56270498-56270548	AG09319	gingival:	n/a
44	chr19:56269259-56269309	LNCaP	prostate:	n/a
45	chr19:56270729-56270779	BJ	skin:	n/a
46	chr19:56270729-56270779	GM12878	blood:	n/a
47	chr19:56269259-56269309	PFSK-1	brain:	n/a
48	chr19:56269246-56269296	SAEC	small airway:	n/a
49	chr19:56269246-56269296	Caco-2	colon:	n/a
50	chr19:56269246-56269296	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
2	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:

No data

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

Extended variants
information (count: 580 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185103383	chr19:56268029-56268030	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539467920	chr19:56268040-56268041	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs8109283	chr19:56268045-56268046	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs62126987	chr19:56268048-56268049	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541962535	chr19:56268052-56268053	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569249539	chr19:56268060-56268061	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562238778	chr19:56268074-56268075	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs2547255	chr19:56268083-56268084	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544728906	chr19:56268086-56268087	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs5028530	chr19:56268101-56268102	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564844735	chr19:56268103-56268104	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs386811101	chr19:56268106-56268107	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs374840956	chr19:56268107-56268108	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs74181753	chr19:56268112-56268113	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs8109382	chr19:56268117-56268118	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549097361	chr19:56268132-56268133	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200491013	chr19:56268136-56268137	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs140113273	chr19:56268144-56268145	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533779481	chr19:56268173-56268174	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113234402	chr19:56268176-56268177	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs577064858	chr19:56268179-56268180	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142060850	chr19:56268183-56268184	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs12151283	chr19:56268195-56268196	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556091454	chr19:56268198-56268199	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112365239	chr19:56268208-56268209	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs555949466	chr19:56268243-56268244	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs535528301	chr19:56268266-56268267	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs574405238	chr19:56268267-56268268	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12151299	chr19:56268284-56268285	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572673320	chr19:56268301-56268302	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs28666018	chr19:56268316-56268317	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368233651	chr19:56268335-56268336	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375792832	chr19:56268384-56268385	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200281725	chr19:56268410-56268411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12151301	chr19:56268432-56268433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578169234	chr19:56268441-56268442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143831753	chr19:56268447-56268448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565148499	chr19:56268455-56268456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116282372	chr19:56268462-56268463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529285201	chr19:56268464-56268465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549058805	chr19:56268485-56268486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376712936	chr19:56268498-56268499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532535294	chr19:56268511-56268512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190027997	chr19:56268513-56268514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74591964	chr19:56268552-56268553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79887196	chr19:56268554-56268555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113156810	chr19:56268574-56268575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78419801	chr19:56268583-56268584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539692080	chr19:56268588-56268589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549835865	chr19:56268594-56268595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56265800-56268200	Weak transcription	Liver	Liver
2	chr19:56267000-56268200	Weak transcription	Pancreas	Pancrea
3	chr19:56268000-56269800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:56268200-56268400	ZNF genes & repeats	Liver	Liver
5	chr19:56268200-56268400	Enhancers	Pancreas	Pancrea
6	chr19:56268400-56272600	Weak transcription	Liver	Liver
7	chr19:56269800-56270200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:56270200-56271800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:56272600-56272800	Active TSS	Liver	Liver
10	chr19:56277000-56279600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:56278000-56278200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr19:56279600-56280000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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