Variant report

Variant	esv1804750
Chromosome Location	chr19:56267547-56281858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:56268023-56268280	A549	lung:	n/a	chr19:56268130-56268143
2	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
3	CEBPB	chr19:56268125-56268161	Hela-S3	cervix:	n/a	chr19:56268130-56268143
4	CEBPB	chr19:56267971-56268186	K562	blood:	n/a	chr19:56268130-56268143
5	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
6	CTCF	chr19:56270569-56270612	GM13976	blood:	n/a	n/a
7	E2F4	chr19:56270326-56270356	MCF10A-Er-Src	breast:	n/a	n/a
8	ELF1	chr19:56271182-56271584	K562	blood:	n/a	chr19:56271419-56271432
9	PBX3	chr19:56277927-56278096	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:56274116-56274147	A549	lung:	n/a	n/a
11	SPI1	chr19:56277792-56278107	GM12878	blood:	n/a	n/a
12	STAT3	chr19:56267962-56268162	MCF10A-Er-Src	breast:	n/a	chr19:56268133-56268141
13	STAT3	chr19:56276461-56276799	MCF10A-Er-Src	breast:	n/a	n/a
14	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	chr19:56270729-56270779	PrEC	prostate:	n/a
2	chr19:56270498-56270548	HRPEpiC	eye:	n/a
3	chr19:56269246-56269296	HRE	kidney:	n/a
4	chr19:56270729-56270779	CMK	blood:	n/a
5	chr19:56270498-56270548	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:56269259-56269309	ProgFib	skin:	n/a
7	chr19:56270498-56270548	CMK	blood:	n/a
8	chr19:56274428-56274478	RPTEC	kidney:	n/a
9	chr19:56269259-56269309	HCM	heart:	n/a
10	chr19:56270729-56270779	NH-A	brain:	n/a
11	chr19:56269259-56269309	HUVEC	blood vessel:	n/a
12	chr19:56269259-56269309	SAEC	small airway:	n/a
13	chr19:56269246-56269296	AG09309	skin:	n/a
14	chr19:56274428-56274478	LNCaP	prostate:	n/a
15	chr19:56270498-56270548	Hela-S3	cervix:	n/a
16	chr19:56269246-56269296	LNCaP	prostate:	n/a
17	chr19:56270729-56270779	PFSK-1	brain:	n/a
18	chr19:56270729-56270779	NB4	blood:	n/a
19	chr19:56270498-56270548	H1-hESC	embryonic stem cell:	embryo
20	chr19:56269246-56269296	MCF10A-Er-Src	breast:	n/a
21	chr19:56274428-56274478	HUVEC	blood vessel:	n/a
22	chr19:56274428-56274478	HAEpiC	amniotic membrane:	n/a
23	chr19:56269259-56269309	AG04450	lung:	fetal
24	chr19:56269246-56269296	NH-A	brain:	n/a
25	chr19:56269246-56269296	ProgFib	skin:	n/a
26	chr19:56269259-56269309	HNPCEpiC	eye:	n/a
27	chr19:56274428-56274478	HCT-116	colon:	n/a
28	chr19:56270498-56270548	MCF-7	breast:	n/a
29	chr19:56270729-56270779	HEEpiC	esophagus:	n/a
30	chr19:56270729-56270779	K562	blood:	n/a
31	chr19:56269259-56269309	AoSMC	blood vessel:	n/a
32	chr19:56269246-56269296	SK-N-MC	brain:	n/a
33	chr19:56269259-56269309	CMK	blood:	n/a
34	chr19:56270498-56270548	A549	lung:	n/a
35	chr19:56270498-56270548	HEK293	kidney:	embryo
36	chr19:56274428-56274478	PrEC	prostate:	n/a
37	chr19:56269259-56269309	HRPEpiC	eye:	n/a
38	chr19:56269259-56269309	Caco-2	colon:	n/a
39	chr19:56269246-56269296	T-47D	breast:	n/a
40	chr19:56270729-56270779	BJ	skin:	n/a
41	chr19:56269246-56269296	HUVEC	blood vessel:	n/a
42	chr19:56270498-56270548	SKMC	muscle:	n/a
43	chr19:56270729-56270779	BE2_C	brain:	n/a
44	chr19:56270729-56270779	SAEC	small airway:	n/a
45	chr19:56270729-56270779	AG10803	skin:	n/a
46	chr19:56270729-56270779	HCPEpiC	choroid plexus:	n/a
47	chr19:56269259-56269309	NH-A	brain:	n/a
48	chr19:56269246-56269296	HRCEpiC	kidney:	n/a
49	chr19:56269246-56269296	K562	blood:	n/a
50	chr19:56270498-56270548	AG10803	skin:	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
RFPL4A	TF binding region
RFPL4AL1	CpG island
RFPL4A	CpG island

Extended variants
information (count: 602 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8106001	chr19:56267547-56267548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574349141	chr19:56267549-56267550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540149855	chr19:56267553-56267554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12151007	chr19:56267561-56267562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2616953	chr19:56267570-56267571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576803345	chr19:56267603-56267604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8107031	chr19:56267696-56267697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562645281	chr19:56267699-56267700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8106255	chr19:56267726-56267727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368070105	chr19:56267745-56267746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542397103	chr19:56267756-56267757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575670843	chr19:56267759-56267760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8106481	chr19:56267804-56267805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527955141	chr19:56267810-56267811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113808757	chr19:56267828-56267829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140070552	chr19:56267839-56267840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533403726	chr19:56267850-56267851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550003402	chr19:56267863-56267864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540692778	chr19:56267891-56267892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561061789	chr19:56267892-56267893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549553950	chr19:56267900-56267901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202004675	chr19:56267901-56267902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570084644	chr19:56267914-56267915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535561253	chr19:56267923-56267924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554306646	chr19:56267966-56267967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77863317	chr19:56267975-56267976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567933372	chr19:56267993-56267994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs192900451	chr19:56267994-56267995	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112689005	chr19:56268001-56268002	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112165336	chr19:56268008-56268009	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185103383	chr19:56268029-56268030	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539467920	chr19:56268040-56268041	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs8109283	chr19:56268045-56268046	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs62126987	chr19:56268048-56268049	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541962535	chr19:56268052-56268053	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569249539	chr19:56268060-56268061	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs562238778	chr19:56268074-56268075	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2547255	chr19:56268083-56268084	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544728906	chr19:56268086-56268087	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs5028530	chr19:56268101-56268102	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564844735	chr19:56268103-56268104	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs386811101	chr19:56268106-56268107	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374840956	chr19:56268107-56268108	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs74181753	chr19:56268112-56268113	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs8109382	chr19:56268117-56268118	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549097361	chr19:56268132-56268133	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs200491013	chr19:56268136-56268137	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs140113273	chr19:56268144-56268145	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs533779481	chr19:56268173-56268174	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113234402	chr19:56268176-56268177	Enhancers Weak transcription	TF binding region	1 gene(s)	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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