Variant report

Variant	esv1797126
Chromosome Location	chr19:56266093-56284360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 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	chr19:56268125-56268161	Hela-S3	cervix:	n/a	chr19:56268130-56268143
3	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
4	CEBPB	chr19:56267971-56268186	K562	blood:	n/a	chr19:56268130-56268143
5	CTCF	chr19:56283229-56283313	GM10266	blood:	n/a	n/a
6	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
7	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
8	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
9	CTCF	chr19:56270569-56270612	GM13976	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	chr19:56267962-56268162	MCF10A-Er-Src	breast:	n/a	chr19:56268133-56268141
17	STAT3	chr19:56276461-56276799	MCF10A-Er-Src	breast:	n/a	n/a
18	TBP	chr19:56270440-56270473	K562	blood:	n/a	n/a
19	TCF7L2	chr19:56265960-56266143	Hela-S3	cervix:	n/a	chr19:56265962-56265978 chr19:56265962-56265978 chr19:56265963-56265977 chr19:56265965-56265974

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56269259-56269309	GM19239	blood:	n/a
2	chr19:56270498-56270548	LNCaP	prostate:	n/a
3	chr19:56269246-56269296	HUVEC	blood vessel:	n/a
4	chr19:56270729-56270779	PrEC	prostate:	n/a
5	chr19:56269246-56269296	HMEC	breast:	n/a
6	chr19:56274428-56274478	ECC-1	luminal epithelium:	n/a
7	chr19:56269246-56269296	NT2-D1	testis:	n/a
8	chr19:56270498-56270548	GM12892	blood:	n/a
9	chr19:56274428-56274478	HRPEpiC	eye:	n/a
10	chr19:56270498-56270548	HIPEpiC	eye:	n/a
11	chr19:56269259-56269309	GM12892	blood:	n/a
12	chr19:56269259-56269309	NB4	blood:	n/a
13	chr19:56269259-56269309	BJ	skin:	n/a
14	chr19:56270498-56270548	HUVEC	blood vessel:	n/a
15	chr19:56269246-56269296	SK-N-SH	brain:	n/a
16	chr19:56269259-56269309	HCM	heart:	n/a
17	chr19:56270498-56270548	ovcar-3	ovarian:	n/a
18	chr19:56274428-56274478	AoSMC	blood vessel:	n/a
19	chr19:56270729-56270779	NT2-D1	testis:	n/a
20	chr19:56270729-56270779	HepG2	liver:	n/a
21	chr19:56269259-56269309	GM12891	blood:	n/a
22	chr19:56274428-56274478	HCT-116	colon:	n/a
23	chr19:56274428-56274478	T-47D	breast:	n/a
24	chr19:56269246-56269296	H1-hESC	embryonic stem cell:	embryo
25	chr19:56270729-56270779	GM19239	blood:	n/a
26	chr19:56274428-56274478	AG04449	skin:	fetal
27	chr19:56270498-56270548	Caco-2	colon:	n/a
28	chr19:56270498-56270548	ProgFib	skin:	n/a
29	chr19:56269246-56269296	Jurkat	blood:	n/a
30	chr19:56269246-56269296	AG09319	gingival:	n/a
31	chr19:56270498-56270548	PFSK-1	brain:	n/a
32	chr19:56274428-56274478	NT2-D1	testis:	n/a
33	chr19:56270729-56270779	CMK	blood:	n/a
34	chr19:56269246-56269296	AoSMC	blood vessel:	n/a
35	chr19:56274428-56274478	AG09309	skin:	n/a
36	chr19:56274428-56274478	HRE	kidney:	n/a
37	chr19:56269259-56269309	AoSMC	blood vessel:	n/a
38	chr19:56269259-56269309	PFSK-1	brain:	n/a
39	chr19:56270729-56270779	U87	brain:	n/a
40	chr19:56269259-56269309	NH-A	brain:	n/a
41	chr19:56274428-56274478	GM19239	blood:	n/a
42	chr19:56270729-56270779	GM06990	blood:	n/a
43	chr19:56269246-56269296	NHDF-neo	bronchial:	n/a
44	chr19:56270729-56270779	IMR90	lung:	fetal
45	chr19:56269246-56269296	PANC-1	pancreas:	n/a
46	chr19:56270498-56270548	SK-N-SH	brain:	n/a
47	chr19:56269259-56269309	SAEC	small airway:	n/a
48	chr19:56274428-56274478	AG09319	gingival:	n/a
49	chr19:56269259-56269309	SK-N-SH	brain:	n/a
50	chr19:56269259-56269309	AG04449	skin:	fetal

(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: 669 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59021594	chr19:56266231-56266232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141101748	chr19:56266233-56266234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112079631	chr19:56266323-56266324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569405814	chr19:56266327-56266328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149678317	chr19:56266363-56266364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115231014	chr19:56266385-56266386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556933909	chr19:56266403-56266404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9304768	chr19:56266415-56266416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs56384214	chr19:56266423-56266424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114913087	chr19:56266434-56266435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148812960	chr19:56266445-56266446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544921511	chr19:56266447-56266448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111638406	chr19:56266607-56266608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565092325	chr19:56266611-56266612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535829580	chr19:56266669-56266670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184941880	chr19:56266690-56266691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544517458	chr19:56266735-56266736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111833535	chr19:56266739-56266740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529677332	chr19:56266745-56266746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546281859	chr19:56266765-56266766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559863918	chr19:56266767-56266768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554533015	chr19:56266780-56266781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573015815	chr19:56266814-56266815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532239674	chr19:56266815-56266816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552457796	chr19:56266818-56266819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143505672	chr19:56266819-56266820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186651986	chr19:56266831-56266832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191501920	chr19:56266890-56266891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548925336	chr19:56266891-56266892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568447934	chr19:56266897-56266898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137983013	chr19:56266938-56266939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112543659	chr19:56266956-56266957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113243326	chr19:56266958-56266959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577222304	chr19:56266971-56266972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113539797	chr19:56267009-56267010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184113539	chr19:56267038-56267039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544161540	chr19:56267039-56267040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112626692	chr19:56267082-56267083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55664540	chr19:56267086-56267087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574090057	chr19:56267087-56267088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539795081	chr19:56267095-56267096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188848717	chr19:56267114-56267115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555509095	chr19:56267115-56267116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139399324	chr19:56267164-56267165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141578637	chr19:56267213-56267214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12151213	chr19:56267250-56267251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150894196	chr19:56267265-56267266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368085493	chr19:56267294-56267295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568819478	chr19:56267297-56267298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527994855	chr19:56267316-56267317	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56265800-56268200	Weak transcription	Liver	Liver
2	chr19:56266000-56266800	Weak transcription	Pancreas	Pancrea
3	chr19:56266800-56267000	Enhancers	Pancreas	Pancrea
4	chr19:56267000-56268200	Weak transcription	Pancreas	Pancrea
5	chr19:56268000-56269800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:56268200-56268400	ZNF genes & repeats	Liver	Liver
7	chr19:56268200-56268400	Enhancers	Pancreas	Pancrea
8	chr19:56268400-56272600	Weak transcription	Liver	Liver
9	chr19:56269800-56270200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr19:56270200-56271800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:56272600-56272800	Active TSS	Liver	Liver
12	chr19:56277000-56279600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:56278000-56278200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr19:56279600-56280000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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