Variant report

Variant	esv1801641
Chromosome Location	chr19:56268219-56289505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:56277973-56278182	K562	blood:	n/a	chr19:56278128-56278141
2	CEBPB	chr19:56268023-56268280	A549	lung:	n/a	chr19:56268130-56268143
3	CTCF	chr19:56288904-56289278	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
4	CTCF	chr19:56289100-56289250	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
5	CTCF	chr19:56288978-56289198	H1-hESC	embryonic stem cell:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
6	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
7	CTCF	chr19:56289000-56289247	Gliobla	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
8	CTCF	chr19:56289023-56289250	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
9	CTCF	chr19:56289050-56289163	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
10	CTCF	chr19:56289064-56289200	LNCaP	prostate:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
11	CTCF	chr19:56289060-56289210	GM06990	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
12	CTCF	chr19:56289040-56289190	Caco-2	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
13	CTCF	chr19:56289021-56289195	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
14	CTCF	chr19:56289040-56289190	WERI-Rb-1	eye:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
15	CTCF	chr19:56289100-56289250	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
16	CTCF	chr19:56289040-56289190	HEK293	kidney:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
17	CTCF	chr19:56270569-56270612	GM13976	blood:	n/a	n/a
18	CTCF	chr19:56289000-56289150	Caco-2	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
19	CTCF	chr19:56289080-56289230	Hela-S3	cervix:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
20	CTCF	chr19:56288980-56289130	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr19:56288994-56289249	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
22	CTCF	chr19:56288930-56289319	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
23	CTCF	chr19:56288886-56289225	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
24	CTCF	chr19:56289060-56289210	HEK293	kidney:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
25	CTCF	chr19:56289020-56289170	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
26	CTCF	chr19:56289056-56289268	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
27	CTCF	chr19:56288909-56289323	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
28	CTCF	chr19:56289040-56289190	GM12865	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
29	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
30	CTCF	chr19:56289017-56289231	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
31	CTCF	chr19:56289000-56289150	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
32	CTCF	chr19:56289020-56289170	NB4	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
33	CTCF	chr19:56289080-56289230	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
34	CTCF	chr19:56283229-56283313	GM10266	blood:	n/a	n/a
35	CTCF	chr19:56289060-56289210	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
36	CTCF	chr19:56288923-56289360	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
37	CTCF	chr19:56288980-56289130	GM12867	blood:	n/a	n/a
38	CTCF	chr19:56288980-56289130	GM12869	blood:	n/a	n/a
39	CTCF	chr19:56289100-56289250	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
40	CTCF	chr19:56289112-56289128	Fibrobl	skin:	n/a	n/a
41	CTCF	chr19:56289028-56289145	GM12891	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
42	CTCF	chr19:56289060-56289210	WERI-Rb-1	eye:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
43	CTCF	chr19:56289080-56289230	GM06990	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
44	CTCF	chr19:56289020-56289170	GM12875	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
45	CTCF	chr19:56289060-56289210	AG09309	skin:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
46	CTCF	chr19:56289010-56289226	GM12878	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
47	CTCF	chr19:56289080-56289230	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
48	CTCF	chr19:56289000-56289150	HCT-116	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
49	CTCF	chr19:56289040-56289190	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
50	CTCF	chr19:56289040-56289190	GM12864	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56269246-56269296	ProgFib	skin:	n/a
2	chr19:56269246-56269296	ProgFib	skin:	n/a
3	chr19:56269259-56269309	SK-N-SH_RA	brain:	n/a
4	chr19:56269259-56269309	PFSK-1	brain:	n/a
5	chr19:56269246-56269296	AG10803	skin:	n/a
6	chr19:56270729-56270779	AG09309	skin:	n/a
7	chr19:56270498-56270548	SK-N-MC	brain:	n/a
8	chr19:56269259-56269309	NT2-D1	testis:	n/a
9	chr19:56269259-56269309	HAEpiC	amniotic membrane:	n/a
10	chr19:56274428-56274478	PFSK-1	brain:	n/a
11	chr19:56270498-56270548	SAEC	small airway:	n/a
12	chr19:56269246-56269296	RPTEC	kidney:	n/a
13	chr19:56269246-56269296	AoSMC	blood vessel:	n/a
14	chr19:56274428-56274478	HCM	heart:	n/a
15	chr19:56274428-56274478	MCF-7	breast:	n/a
16	chr19:56274428-56274478	GM19239	blood:	n/a
17	chr19:56269246-56269296	MCF10A-Er-Src	breast:	n/a
18	chr19:56274428-56274478	GM06990	blood:	n/a
19	chr19:56269246-56269296	HCM	heart:	n/a
20	chr19:56269246-56269296	Hepatocyte	liver:	n/a
21	chr19:56270498-56270548	HepG2	liver:	n/a
22	chr19:56270729-56270779	GM19239	blood:	n/a
23	chr19:56270498-56270548	NT2-D1	testis:	n/a
24	chr19:56270498-56270548	HNPCEpiC	eye:	n/a
25	chr19:56269259-56269309	AG04450	lung:	fetal
26	chr19:56269246-56269296	AG04449	skin:	fetal
27	chr19:56269246-56269296	GM12891	blood:	n/a
28	chr19:56274428-56274478	NB4	blood:	n/a
29	chr19:56270729-56270779	Caco-2	colon:	n/a
30	chr19:56270498-56270548	HCF	heart:	n/a
31	chr19:56269259-56269309	HepG2	liver:	n/a
32	chr19:56270498-56270548	U87	brain:	n/a
33	chr19:56274428-56274478	A549	lung:	n/a
34	chr19:56274428-56274478	SK-N-SH	brain:	n/a
35	chr19:56270729-56270779	NHDF-neo	bronchial:	n/a
36	chr19:56269246-56269296	HEK293	kidney:	embryo
37	chr19:56270498-56270548	AG04449	skin:	fetal
38	chr19:56269259-56269309	HRPEpiC	eye:	n/a
39	chr19:56270498-56270548	NHBE	bronchial:	n/a
40	chr19:56274428-56274478	ECC-1	luminal epithelium:	n/a
41	chr19:56270498-56270548	ECC-1	luminal epithelium:	n/a
42	chr19:56270498-56270548	AG09309	skin:	n/a
43	chr19:56274428-56274478	AoSMC	blood vessel:	n/a
44	chr19:56270729-56270779	HUVEC	blood vessel:	n/a
45	chr19:56269259-56269309	U87	brain:	n/a
46	chr19:56274428-56274478	LNCaP	prostate:	n/a
47	chr19:56270729-56270779	H1-hESC	embryonic stem cell:	embryo
48	chr19:56270729-56270779	PANC-1	pancreas:	n/a
49	chr19:56270729-56270779	HRCEpiC	kidney:	n/a
50	chr19:56269246-56269296	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:41464575..41466240-chr19:56288867..56290367,2	K562	blood:
2	chr19:56288962..56289563-chr19:56320651..56321410,3	MCF-7	breast:
3	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:
4	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:

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
ENSG00000188825	chromatin interactions

Extended variants
information (count: 585 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:585 , 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	rs555949466	chr19:56268243-56268244	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535528301	chr19:56268266-56268267	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574405238	chr19:56268267-56268268	Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12151299	chr19:56268284-56268285	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572673320	chr19:56268301-56268302	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28666018	chr19:56268316-56268317	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368233651	chr19:56268335-56268336	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375792832	chr19:56268384-56268385	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200281725	chr19:56268410-56268411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12151301	chr19:56268432-56268433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs578169234	chr19:56268441-56268442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143831753	chr19:56268447-56268448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565148499	chr19:56268455-56268456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116282372	chr19:56268462-56268463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529285201	chr19:56268464-56268465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549058805	chr19:56268485-56268486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376712936	chr19:56268498-56268499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532535294	chr19:56268511-56268512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190027997	chr19:56268513-56268514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74591964	chr19:56268552-56268553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79887196	chr19:56268554-56268555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113156810	chr19:56268574-56268575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78419801	chr19:56268583-56268584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539692080	chr19:56268588-56268589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549835865	chr19:56268594-56268595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141859721	chr19:56268595-56268596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530140565	chr19:56268600-56268601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12977935	chr19:56268615-56268616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117589742	chr19:56268631-56268632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117640224	chr19:56268638-56268639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558300755	chr19:56268646-56268647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57811722	chr19:56268653-56268654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs57857732	chr19:56268662-56268663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544080739	chr19:56268674-56268675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182257603	chr19:56268675-56268676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79559880	chr19:56268682-56268683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199634619	chr19:56268738-56268739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186358083	chr19:56268741-56268742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559332477	chr19:56268761-56268762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528553199	chr19:56268796-56268797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545194345	chr19:56268799-56268800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564285485	chr19:56268800-56268801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200639151	chr19:56268819-56268820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28648033	chr19:56268833-56268834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550046042	chr19:56268842-56268843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10425527	chr19:56268863-56268864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529212523	chr19:56268881-56268882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549736236	chr19:56268893-56268894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370826662	chr19:56268912-56268913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386811102	chr19:56268917-56268918	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:12 , 50 per page) page: 1

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

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