Variant report

Variant	esv1804530
Chromosome Location	chr19:56265070-56285205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:306)
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	chr19:56267971-56268186	K562	blood:	n/a	chr19:56268130-56268143
3	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
4	CEBPB	chr19:56268125-56268161	Hela-S3	cervix:	n/a	chr19:56268130-56268143
5	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
6	CTCF	chr19:56270569-56270612	GM13976	blood:	n/a	n/a
7	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
8	CTCF	chr19:56277860-56278010	HAc	cerebellar:	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	chr19:56274116-56274147	A549	lung:	n/a	n/a
14	POLR2A	chr19:56284139-56284358	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
19	TCF7L2	chr19:56265960-56266143	Hela-S3	cervix:	n/a	chr19:56265962-56265978 chr19:56265962-56265978 chr19:56265963-56265977 chr19:56265965-56265974

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56274428-56274478	PrEC	prostate:	n/a
2	chr19:56274428-56274478	PrEC	prostate:	n/a
3	chr19:56270498-56270548	SKMC	muscle:	n/a
4	chr19:56269259-56269309	AoSMC	blood vessel:	n/a
5	chr19:56274428-56274478	A549	lung:	n/a
6	chr19:56274428-56274478	HRPEpiC	eye:	n/a
7	chr19:56269246-56269296	HEK293	kidney:	embryo
8	chr19:56274428-56274478	ovcar-3	ovarian:	n/a
9	chr19:56274428-56274478	Caco-2	colon:	n/a
10	chr19:56270729-56270779	PrEC	prostate:	n/a
11	chr19:56274428-56274478	H1-hESC	embryonic stem cell:	embryo
12	chr19:56269246-56269296	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:56269246-56269296	AoSMC	blood vessel:	n/a
14	chr19:56274428-56274478	Hepatocyte	liver:	n/a
15	chr19:56269259-56269309	HEEpiC	esophagus:	n/a
16	chr19:56274428-56274478	NT2-D1	testis:	n/a
17	chr19:56270729-56270779	BJ	skin:	n/a
18	chr19:56274428-56274478	NH-A	brain:	n/a
19	chr19:56270498-56270548	ProgFib	skin:	n/a
20	chr19:56269259-56269309	HRPEpiC	eye:	n/a
21	chr19:56269246-56269296	GM12891	blood:	n/a
22	chr19:56269246-56269296	AG09309	skin:	n/a
23	chr19:56269259-56269309	AG09319	gingival:	n/a
24	chr19:56270498-56270548	PFSK-1	brain:	n/a
25	chr19:56270498-56270548	PANC-1	pancreas:	n/a
26	chr19:56270729-56270779	GM12891	blood:	n/a
27	chr19:56269246-56269296	SAEC	small airway:	n/a
28	chr19:56269246-56269296	ECC-1	luminal epithelium:	n/a
29	chr19:56270498-56270548	HCPEpiC	choroid plexus:	n/a
30	chr19:56270498-56270548	HCM	heart:	n/a
31	chr19:56269246-56269296	SK-N-MC	brain:	n/a
32	chr19:56270498-56270548	MCF10A-Er-Src	breast:	n/a
33	chr19:56270729-56270779	HCM	heart:	n/a
34	chr19:56269246-56269296	PFSK-1	brain:	n/a
35	chr19:56270729-56270779	AoSMC	blood vessel:	n/a
36	chr19:56270729-56270779	HIPEpiC	eye:	n/a
37	chr19:56274428-56274478	PANC-1	pancreas:	n/a
38	chr19:56269259-56269309	Jurkat	blood:	n/a
39	chr19:56274428-56274478	AG04449	skin:	fetal
40	chr19:56269259-56269309	CMK	blood:	n/a
41	chr19:56269259-56269309	SK-N-MC	brain:	n/a
42	chr19:56269246-56269296	SK-N-SH_RA	brain:	n/a
43	chr19:56270498-56270548	PrEC	prostate:	n/a
44	chr19:56269259-56269309	RPTEC	kidney:	n/a
45	chr19:56274428-56274478	NHBE	bronchial:	n/a
46	chr19:56269246-56269296	AG04449	skin:	fetal
47	chr19:56270498-56270548	NHBE	bronchial:	n/a
48	chr19:56274428-56274478	HL-60	blood:	n/a
49	chr19:56269259-56269309	HRCEpiC	kidney:	n/a
50	chr19:56269259-56269309	MCF-7	breast:	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: 722 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189778113	chr19:56265074-56265075	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34047470	chr19:56265091-56265092	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537119347	chr19:56265096-56265097	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556806436	chr19:56265120-56265121	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73055904	chr19:56265121-56265122	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536488226	chr19:56265132-56265133	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371149632	chr19:56265144-56265145	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553248027	chr19:56265165-56265166	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376628600	chr19:56265169-56265170	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12460887	chr19:56265195-56265196	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533568271	chr19:56265203-56265204	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182434812	chr19:56265204-56265205	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148496136	chr19:56265205-56265206	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554064513	chr19:56265206-56265207	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558884325	chr19:56265217-56265218	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575578302	chr19:56265277-56265278	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142876336	chr19:56265373-56265374	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561267633	chr19:56265391-56265392	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529100428	chr19:56265393-56265394	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187110494	chr19:56265420-56265421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559594582	chr19:56265426-56265427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57963573	chr19:56265476-56265477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35370140	chr19:56265502-56265503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571199256	chr19:56265534-56265535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572910825	chr19:56265557-56265558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370330819	chr19:56265580-56265581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540345493	chr19:56265597-56265598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17634917	chr19:56265664-56265665	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	disease
29	rs567069693	chr19:56265684-56265685	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535945096	chr19:56265696-56265697	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553117017	chr19:56265709-56265710	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80063101	chr19:56265714-56265715	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538925233	chr19:56265754-56265755	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559023632	chr19:56265761-56265762	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563865039	chr19:56265794-56265795	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575587343	chr19:56265796-56265797	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373086231	chr19:56265797-56265798	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4801624	chr19:56265809-56265810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs144087008	chr19:56265838-56265839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574942903	chr19:56265876-56265877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73933327	chr19:56265907-56265908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10404126	chr19:56265918-56265919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183818190	chr19:56265947-56265948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73933328	chr19:56265948-56265949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146528654	chr19:56265963-56265964	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565072117	chr19:56265964-56265965	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs557622762	chr19:56265987-56265988	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs193205457	chr19:56265992-56265993	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567614467	chr19:56265993-56265994	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs550259734	chr19:56266031-56266032	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56264800-56265600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr19:56265000-56265400	Flanking Active TSS	Liver	Liver
3	chr19:56265000-56266000	Enhancers	Pancreas	Pancrea
4	chr19:56265400-56265600	Enhancers	Liver	Liver
5	chr19:56265400-56265800	Enhancers	Gastric	stomach
6	chr19:56265600-56265800	Flanking Active TSS	Liver	Liver
7	chr19:56265800-56268200	Weak transcription	Liver	Liver
8	chr19:56266000-56266800	Weak transcription	Pancreas	Pancrea
9	chr19:56266800-56267000	Enhancers	Pancreas	Pancrea
10	chr19:56267000-56268200	Weak transcription	Pancreas	Pancrea
11	chr19:56268000-56269800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr19:56268200-56268400	ZNF genes & repeats	Liver	Liver
13	chr19:56268200-56268400	Enhancers	Pancreas	Pancrea
14	chr19:56268400-56272600	Weak transcription	Liver	Liver
15	chr19:56269800-56270200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr19:56270200-56271800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:56272600-56272800	Active TSS	Liver	Liver
18	chr19:56277000-56279600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr19:56278000-56278200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
20	chr19:56279600-56280000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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