Variant report

Variant	esv1825532
Chromosome Location	chr19:56233565-56285205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:614)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:56234945-56235374	K562	blood:	n/a	chr19:56235044-56235055
2	CEBPB	chr19:56234934-56235201	HepG2	liver:	n/a	chr19:56235044-56235055
3	CEBPB	chr19:56252761-56252952	K562	blood:	n/a	chr19:56252917-56252928
4	CEBPB	chr19:56235033-56235237	Hela-S3	cervix:	n/a	chr19:56235044-56235055
5	CEBPB	chr19:56267971-56268186	K562	blood:	n/a	chr19:56268130-56268143
6	CEBPB	chr19:56252893-56252942	HepG2	liver:	n/a	chr19:56252917-56252928
7	CEBPB	chr19:56252920-56252934	A549	lung:	n/a	n/a
8	CEBPB	chr19:56268023-56268280	A549	lung:	n/a	chr19:56268130-56268143
9	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
10	CEBPB	chr19:56268125-56268161	Hela-S3	cervix:	n/a	chr19:56268130-56268143
11	CEBPB	chr19:56258745-56258858	HepG2	liver:	n/a	chr19:56258809-56258820
12	CEBPB	chr19:56235024-56235213	IMR90	lung:	n/a	chr19:56235044-56235055
13	CTCF	chr19:56283229-56283313	GM10266	blood:	n/a	n/a
14	CTCF	chr19:56264236-56264269	Lung_OC	lung:	n/a	n/a
15	CTCF	chr19:56258305-56258414	MCF-7	breast:	n/a	n/a
16	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
17	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
18	CTCF	chr19:56258237-56258238	GM19239	blood:	n/a	n/a
19	CTCF	chr19:56270569-56270612	GM13976	blood:	n/a	n/a
20	CTCF	chr19:56258247-56258265	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
22	CTCF	chr19:56258240-56258344	GM19239	blood:	n/a	n/a
23	E2F4	chr19:56235735-56235906	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr19:56270326-56270356	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr19:56252193-56252357	MCF10A-Er-Src	breast:	n/a	n/a
26	ELF1	chr19:56271182-56271584	K562	blood:	n/a	chr19:56271419-56271432
27	GATA3	chr19:56248412-56248612	SH-SY5Y	brain:	n/a	n/a
28	MAFK	chr19:56241181-56241264	HepG2	liver:	n/a	n/a
29	MYC	chr19:56258306-56258412	MCF-7	breast:	n/a	n/a
30	MYC	chr19:56258308-56258414	MCF-7	breast:	n/a	n/a
31	PBX3	chr19:56277927-56278096	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:56274116-56274147	A549	lung:	n/a	n/a
33	POLR2A	chr19:56248663-56248772	MCF-7	breast:	n/a	n/a
34	POLR2A	chr19:56284139-56284358	A549	lung:	n/a	n/a
35	POLR2A	chr19:56259003-56259128	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:56242101-56242165	MCF-7	breast:	n/a	n/a
37	SPI1	chr19:56277792-56278107	GM12878	blood:	n/a	n/a
38	STAT3	chr19:56276461-56276799	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr19:56267962-56268162	MCF10A-Er-Src	breast:	n/a	chr19:56268133-56268141
40	TAL1	chr19:56255612-56255727	K562	blood:	n/a	n/a
41	TBP	chr19:56270440-56270473	K562	blood:	n/a	n/a
42	TCF7L2	chr19:56265960-56266143	Hela-S3	cervix:	n/a	chr19:56265962-56265978 chr19:56265962-56265978 chr19:56265963-56265977 chr19:56265965-56265974
43	YY1	chr19:56243706-56243905	K562	blood:	n/a	n/a
44	ZNF384	chr19:56252891-56253112	K562	blood:	n/a	n/a

(count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56270498-56270548	GM12892	blood:	n/a
2	chr19:56270498-56270548	MCF-7	breast:	n/a
3	chr19:56250652-56250702	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:56249743-56249793	HL-60	blood:	n/a
5	chr19:56270498-56270548	GM12892	blood:	n/a
6	chr19:56270498-56270548	MCF-7	breast:	n/a
7	chr19:56250652-56250702	HPAEpiC	pulmonary alveolar:	n/a
8	chr19:56249743-56249793	HL-60	blood:	n/a
9	chr19:56270498-56270548	HNPCEpiC	eye:	n/a
10	chr19:56270498-56270548	GM12878	blood:	n/a
11	chr19:56274428-56274478	MCF-7	breast:	n/a
12	chr19:56270498-56270548	HRE	kidney:	n/a
13	chr19:56270498-56270548	NH-A	brain:	n/a
14	chr19:56249291-56249341	HMEC	breast:	n/a
15	chr19:56269259-56269309	GM12891	blood:	n/a
16	chr19:56250127-56250177	A549	lung:	n/a
17	chr19:56270498-56270548	CMK	blood:	n/a
18	chr19:56249743-56249793	RPTEC	kidney:	n/a
19	chr19:56270729-56270779	T-47D	breast:	n/a
20	chr19:56274428-56274478	HRE	kidney:	n/a
21	chr19:56274428-56274478	HL-60	blood:	n/a
22	chr19:56270498-56270548	HEEpiC	esophagus:	n/a
23	chr19:56274428-56274478	SK-N-MC	brain:	n/a
24	chr19:56269246-56269296	BJ	skin:	n/a
25	chr19:56250127-56250177	Jurkat	blood:	n/a
26	chr19:56249743-56249793	HNPCEpiC	eye:	n/a
27	chr19:56250127-56250177	IMR90	lung:	fetal
28	chr19:56274428-56274478	AoSMC	blood vessel:	n/a
29	chr19:56249891-56249941	HRE	kidney:	n/a
30	chr19:56250652-56250702	HAEpiC	amniotic membrane:	n/a
31	chr19:56270729-56270779	NH-A	brain:	n/a
32	chr19:56269246-56269296	ProgFib	skin:	n/a
33	chr19:56249743-56249793	MCF-7	breast:	n/a
34	chr19:56270729-56270779	AoSMC	blood vessel:	n/a
35	chr19:56250127-56250177	ECC-1	luminal epithelium:	n/a
36	chr19:56269246-56269296	AG09319	gingival:	n/a
37	chr19:56269246-56269296	GM12892	blood:	n/a
38	chr19:56249891-56249941	GM12892	blood:	n/a
39	chr19:56250652-56250702	NT2-D1	testis:	n/a
40	chr19:56269259-56269309	HNPCEpiC	eye:	n/a
41	chr19:56249891-56249941	GM06990	blood:	n/a
42	chr19:56270729-56270779	HEEpiC	esophagus:	n/a
43	chr19:56249891-56249941	HAEpiC	amniotic membrane:	n/a
44	chr19:56270729-56270779	ECC-1	luminal epithelium:	n/a
45	chr19:56270498-56270548	HIPEpiC	eye:	n/a
46	chr19:56249743-56249793	HMEC	breast:	n/a
47	chr19:56269259-56269309	A549	lung:	n/a
48	chr19:56270498-56270548	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:56270498-56270548	SAEC	small airway:	n/a
50	chr19:56270498-56270548	HL-60	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56223858..56225860-chr19:56232350..56234424,2	MCF-7	breast:
2	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
3	chr19:56238198..56240970-chr19:56241234..56244950,3	K562	blood:
4	chr19:56235628..56237563-chr19:56238929..56240909,2	K562	blood:
5	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
6	chr19:56220865..56224676-chr19:56230629..56233910,4	K562	blood:
7	chr19:56235628..56237563-chr19:56238929..56240909,2	K562	blood:
8	chr19:56252523..56255492-chr19:56257324..56260762,3	K562	blood:
9	chr19:56238198..56240970-chr19:56241234..56244950,3	K562	blood:
10	chr19:56252523..56255492-chr19:56257324..56260762,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFPL4A-1	chr19:56248651-56248966	NONHSAT068080

No data

Variant related genes	Relation type
RFPL4AL1	TF binding region
RN7SKP109	TF binding region
RFPL4AP1	TF binding region
RFPL4A	TF binding region
NLRP9	TF binding region
RFPL4AL1	CpG island
RN7SKP109	CpG island
RFPL4AP1	CpG island
RFPL4A	CpG island
NLRP9	CpG island

Extended variants
information (count: 979 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544208058	chr19:56235229-56235230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571091020	chr19:56235234-56235235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140998610	chr19:56235248-56235249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540034558	chr19:56235293-56235294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566883153	chr19:56235300-56235301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368336547	chr19:56235312-56235313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372491507	chr19:56235323-56235324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112704427	chr19:56235324-56235325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201509678	chr19:56235338-56235339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141502486	chr19:56235368-56235369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150906167	chr19:56235381-56235382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138353536	chr19:56235382-56235383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369404944	chr19:56235384-56235385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538036101	chr19:56235405-56235406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149638733	chr19:56235410-56235411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202130897	chr19:56235416-56235417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201349141	chr19:56235417-56235418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372093765	chr19:56235418-56235419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200666148	chr19:56235421-56235422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375031940	chr19:56235425-56235426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144650620	chr19:56235426-56235427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369094870	chr19:56235433-56235434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570870215	chr19:56235448-56235449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373461222	chr19:56235467-56235468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538808781	chr19:56235486-56235487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568003315	chr19:56235522-56235523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141643684	chr19:56235523-56235524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10423927	chr19:56235537-56235538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575608449	chr19:56235570-56235571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147876380	chr19:56235625-56235626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141497975	chr19:56235648-56235649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191627036	chr19:56235659-56235660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61624557	chr19:56235675-56235676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560159634	chr19:56235679-56235680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532143648	chr19:56235706-56235707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556510322	chr19:56235743-56235744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150012771	chr19:56235751-56235752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376419984	chr19:56235771-56235772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555088626	chr19:56235777-56235778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369047521	chr19:56235793-56235794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145230686	chr19:56235794-56235795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73933320	chr19:56235806-56235807	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562263841	chr19:56235831-56235832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574768158	chr19:56235849-56235850	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557702774	chr19:56235865-56235866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535674080	chr19:56235877-56235878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539987533	chr19:56235889-56235890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553929177	chr19:56235894-56235895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs377215403	chr19:56235916-56235917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77780005	chr19:56235968-56235969	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56235200-56235800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr19:56235800-56236200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:56236200-56237000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr19:56237000-56237600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:56244800-56245200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:56264400-56265000	Enhancers	Liver	Liver
7	chr19:56264800-56265600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr19:56265000-56265400	Flanking Active TSS	Liver	Liver
9	chr19:56265000-56266000	Enhancers	Pancreas	Pancrea
10	chr19:56265400-56265600	Enhancers	Liver	Liver
11	chr19:56265400-56265800	Enhancers	Gastric	stomach
12	chr19:56265600-56265800	Flanking Active TSS	Liver	Liver
13	chr19:56265800-56268200	Weak transcription	Liver	Liver
14	chr19:56266000-56266800	Weak transcription	Pancreas	Pancrea
15	chr19:56266800-56267000	Enhancers	Pancreas	Pancrea
16	chr19:56267000-56268200	Weak transcription	Pancreas	Pancrea
17	chr19:56268000-56269800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr19:56268200-56268400	ZNF genes & repeats	Liver	Liver
19	chr19:56268200-56268400	Enhancers	Pancreas	Pancrea
20	chr19:56268400-56272600	Weak transcription	Liver	Liver
21	chr19:56269800-56270200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:56270200-56271800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:56272600-56272800	Active TSS	Liver	Liver
24	chr19:56277000-56279600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr19:56278000-56278200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr19:56279600-56280000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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