Variant report

Variant	esv3528786
Chromosome Location	chr19:56274119-56289998
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	CTCF	chr19:56289028-56289202	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
3	CTCF	chr19:56289056-56289268	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
4	CTCF	chr19:56288980-56289130	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr19:56289060-56289210	HEK293	kidney:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
6	CTCF	chr19:56288920-56289070	GM12865	blood:	n/a	n/a
7	CTCF	chr19:56288980-56289130	GM12869	blood:	n/a	n/a
8	CTCF	chr19:56289019-56289217	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
9	CTCF	chr19:56289883-56289923	GM13976	blood:	n/a	n/a
10	CTCF	chr19:56288930-56289319	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
11	CTCF	chr19:56289060-56289210	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
12	CTCF	chr19:56288904-56289278	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
13	CTCF	chr19:56289000-56289150	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
14	CTCF	chr19:56289020-56289170	NB4	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
15	CTCF	chr19:56289023-56289250	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
16	CTCF	chr19:56289028-56289145	GM12891	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
17	CTCF	chr19:56289000-56289150	HCT-116	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
18	CTCF	chr19:56289050-56289163	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
19	CTCF	chr19:56289017-56289229	Hela-S3	cervix:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
20	CTCF	chr19:56289064-56289200	LNCaP	prostate:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
21	CTCF	chr19:56289064-56289192	LNCaP	prostate:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
22	CTCF	chr19:56289020-56289170	GM12875	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
23	CTCF	chr19:56289000-56289247	Gliobla	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
24	CTCF	chr19:56289030-56289200	H1-hESC	embryonic stem cell:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
25	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
26	CTCF	chr19:56289001-56289234	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
27	CTCF	chr19:56289000-56289150	GM12873	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
28	CTCF	chr19:56288886-56289225	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
29	CTCF	chr19:56289100-56289250	GM12872	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
30	CTCF	chr19:56289060-56289210	GM06990	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
31	CTCF	chr19:56289100-56289250	BE2_C	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
32	CTCF	chr19:56289040-56289190	GM12865	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
33	CTCF	chr19:56289100-56289250	GM12865	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
34	CTCF	chr19:56289060-56289210	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
35	CTCF	chr19:56289080-56289230	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
36	CTCF	chr19:56289021-56289222	GM12892	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
37	CTCF	chr19:56289200-56289350	Caco-2	colon:	n/a	n/a
38	CTCF	chr19:56289060-56289210	WERI-Rb-1	eye:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
39	CTCF	chr19:56289014-56289235	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
40	CTCF	chr19:56288994-56289249	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
41	CTCF	chr19:56289017-56289231	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
42	CTCF	chr19:56288909-56289323	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
43	CTCF	chr19:56289060-56289210	AG09309	skin:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
44	CTCF	chr19:56289040-56289190	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
45	CTCF	chr19:56289060-56289210	SK-N-SH_RA	brain:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
46	CTCF	chr19:56289100-56289250	A549	lung:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
47	CTCF	chr19:56289060-56289210	GM12870	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
48	CTCF	chr19:56288980-56289130	GM12867	blood:	n/a	n/a
49	CTCF	chr19:56289040-56289190	Caco-2	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
50	CTCF	chr19:56288905-56289243	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56274428-56274478	NHDF-neo	bronchial:	n/a
2	chr19:56274428-56274478	HUVEC	blood vessel:	n/a
3	chr19:56274428-56274478	AG09319	gingival:	n/a
4	chr19:56274428-56274478	HRE	kidney:	n/a
5	chr19:56274428-56274478	HIPEpiC	eye:	n/a
6	chr19:56274428-56274478	AG04449	skin:	fetal
7	chr19:56274428-56274478	GM06990	blood:	n/a
8	chr19:56274428-56274478	HEK293	kidney:	embryo
9	chr19:56274428-56274478	PFSK-1	brain:	n/a
10	chr19:56274428-56274478	NT2-D1	testis:	n/a
11	chr19:56274428-56274478	IMR90	lung:	fetal
12	chr19:56274428-56274478	Hela-S3	cervix:	n/a
13	chr19:56274428-56274478	ProgFib	skin:	n/a
14	chr19:56274428-56274478	NB4	blood:	n/a
15	chr19:56274428-56274478	HepG2	liver:	n/a
16	chr19:56274428-56274478	BE2_C	brain:	n/a
17	chr19:56274428-56274478	T-47D	breast:	n/a
18	chr19:56274428-56274478	NHBE	bronchial:	n/a
19	chr19:56274428-56274478	HAEpiC	amniotic membrane:	n/a
20	chr19:56274428-56274478	GM12892	blood:	n/a
21	chr19:56274428-56274478	HMEC	breast:	n/a
22	chr19:56274428-56274478	HCPEpiC	choroid plexus:	n/a
23	chr19:56274428-56274478	SK-N-SH	brain:	n/a
24	chr19:56274428-56274478	HRCEpiC	kidney:	n/a
25	chr19:56274428-56274478	ECC-1	luminal epithelium:	n/a
26	chr19:56274428-56274478	HNPCEpiC	eye:	n/a
27	chr19:56274428-56274478	AoSMC	blood vessel:	n/a
28	chr19:56274428-56274478	HCT-116	colon:	n/a
29	chr19:56274428-56274478	GM12878	blood:	n/a
30	chr19:56274428-56274478	Hepatocyte	liver:	n/a
31	chr19:56274428-56274478	ovcar-3	ovarian:	n/a
32	chr19:56274428-56274478	RPTEC	kidney:	n/a
33	chr19:56274428-56274478	PANC-1	pancreas:	n/a
34	chr19:56274428-56274478	A549	lung:	n/a
35	chr19:56274428-56274478	H1-hESC	embryonic stem cell:	embryo
36	chr19:56274428-56274478	AG04450	lung:	fetal
37	chr19:56274428-56274478	SAEC	small airway:	n/a
38	chr19:56274428-56274478	AG09309	skin:	n/a
39	chr19:56274428-56274478	BJ	skin:	n/a
40	chr19:56274428-56274478	HCF	heart:	n/a
41	chr19:56274428-56274478	SK-N-MC	brain:	n/a
42	chr19:56274428-56274478	MCF10A-Er-Src	breast:	n/a
43	chr19:56274428-56274478	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:56274428-56274478	Caco-2	colon:	n/a
45	chr19:56274428-56274478	HCM	heart:	n/a
46	chr19:56274428-56274478	MCF-7	breast:	n/a
47	chr19:56274428-56274478	NH-A	brain:	n/a
48	chr19:56274428-56274478	PrEC	prostate:	n/a
49	chr19:56274428-56274478	GM19239	blood:	n/a
50	chr19:56274428-56274478	U87	brain:	n/a

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

Variant related genes	Relation type
RFPL4AL1	TF binding region
RFPL4AP1	TF binding region
RFPL4AL1	CpG island
RFPL4AP1	CpG island
ENSG00000188825	chromatin interactions

Extended variants
information (count: 333 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531697521	chr19:56276476-56276477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs538568128	chr19:56276489-56276490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558109534	chr19:56276537-56276538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200865210	chr19:56276546-56276547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561995393	chr19:56276547-56276548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs139096112	chr19:56276549-56276550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs574930091	chr19:56276604-56276605	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543899973	chr19:56276614-56276615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138487618	chr19:56276638-56276639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200393737	chr19:56276647-56276648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141934612	chr19:56276653-56276654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540786296	chr19:56276654-56276655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560539787	chr19:56276667-56276668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs114477088	chr19:56276697-56276698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531043086	chr19:56276728-56276729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs181141708	chr19:56276758-56276759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs74990011	chr19:56277000-56277001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568500949	chr19:56277096-56277097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572638862	chr19:56277128-56277129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75712418	chr19:56277146-56277147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566359761	chr19:56277204-56277205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538532489	chr19:56277257-56277258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558464411	chr19:56277258-56277259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115600863	chr19:56277298-56277299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139978563	chr19:56277310-56277311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113986252	chr19:56277356-56277357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537805079	chr19:56277358-56277359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373329138	chr19:56277429-56277430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13344804	chr19:56277430-56277431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574446171	chr19:56277443-56277444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539981727	chr19:56277456-56277457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576388458	chr19:56277477-56277478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10420943	chr19:56277494-56277495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546517645	chr19:56277511-56277512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563130087	chr19:56277523-56277524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532053385	chr19:56277533-56277534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117909667	chr19:56277538-56277539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543784835	chr19:56277573-56277574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561965129	chr19:56277587-56277588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7258127	chr19:56277619-56277620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139831211	chr19:56277667-56277668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145461034	chr19:56277703-56277704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147685522	chr19:56277727-56277728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529145779	chr19:56277751-56277752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551959886	chr19:56277752-56277753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148883622	chr19:56277802-56277803	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143542058	chr19:56277811-56277812	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs7246212	chr19:56277868-56277869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs554527888	chr19:56277878-56277879	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567998240	chr19:56277892-56277893	Enhancers	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56277000-56279600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:56278000-56278200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
3	chr19:56279600-56280000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr19:56280000-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:56281200-56281800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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