Variant report

Variant	esv2760504
Chromosome Location	chr19:56271310-56288941
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	chr19:56288923-56289360	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
3	CTCF	chr19:56283320-56283323	GM10266	blood:	n/a	n/a
4	CTCF	chr19:56288909-56289323	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
5	CTCF	chr19:56277860-56278010	HAc	cerebellar:	n/a	n/a
6	CTCF	chr19:56288926-56289301	HepG2	liver:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
7	CTCF	chr19:56288886-56289225	MCF-7	breast:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
8	CTCF	chr19:56288930-56289319	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
9	CTCF	chr19:56282862-56282960	GM13976	blood:	n/a	n/a
10	CTCF	chr19:56288905-56289243	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
11	CTCF	chr19:56283229-56283313	GM10266	blood:	n/a	n/a
12	CTCF	chr19:56288920-56289070	GM12865	blood:	n/a	n/a
13	CTCF	chr19:56288833-56289365	HCT-116	colon:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
14	CTCF	chr19:56288904-56289278	K562	blood:	n/a	chr19:56289124-56289137 chr19:56289121-56289139
15	ELF1	chr19:56271182-56271584	K562	blood:	n/a	chr19:56271419-56271432
16	PBX3	chr19:56277927-56278096	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:56274116-56274147	A549	lung:	n/a	n/a
18	POLR2A	chr19:56284139-56284358	A549	lung:	n/a	n/a
19	RAD21	chr19:56288869-56289393	HCT-116	colon:	n/a	chr19:56289122-56289141 chr19:56289123-56289137
20	RAD21	chr19:56288923-56289273	K562	blood:	n/a	chr19:56289122-56289141 chr19:56289123-56289137
21	RAD21	chr19:56288907-56289398	HCT-116	colon:	n/a	chr19:56289122-56289141 chr19:56289123-56289137
22	RAD21	chr19:56288845-56289386	A549	lung:	n/a	chr19:56289122-56289141 chr19:56289123-56289137
23	RAD21	chr19:56288908-56289381	A549	lung:	n/a	chr19:56289122-56289141 chr19:56289123-56289137
24	SPI1	chr19:56277792-56278107	GM12878	blood:	n/a	n/a
25	STAT3	chr19:56276461-56276799	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56274428-56274478	CMK	blood:	n/a
2	chr19:56274428-56274478	LNCaP	prostate:	n/a
3	chr19:56274428-56274478	NB4	blood:	n/a
4	chr19:56274428-56274478	HRPEpiC	eye:	n/a
5	chr19:56274428-56274478	GM12891	blood:	n/a
6	chr19:56274428-56274478	HepG2	liver:	n/a
7	chr19:56274428-56274478	SK-N-MC	brain:	n/a
8	chr19:56274428-56274478	BE2_C	brain:	n/a
9	chr19:56274428-56274478	GM12878	blood:	n/a
10	chr19:56274428-56274478	AG09319	gingival:	n/a
11	chr19:56274428-56274478	PrEC	prostate:	n/a
12	chr19:56274428-56274478	PFSK-1	brain:	n/a
13	chr19:56274428-56274478	K562	blood:	n/a
14	chr19:56274428-56274478	HCM	heart:	n/a
15	chr19:56274428-56274478	AG10803	skin:	n/a
16	chr19:56274428-56274478	HUVEC	blood vessel:	n/a
17	chr19:56274428-56274478	Hela-S3	cervix:	n/a
18	chr19:56274428-56274478	Caco-2	colon:	n/a
19	chr19:56274428-56274478	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:56274428-56274478	ECC-1	luminal epithelium:	n/a
21	chr19:56274428-56274478	HCT-116	colon:	n/a
22	chr19:56274428-56274478	GM12892	blood:	n/a
23	chr19:56274428-56274478	HNPCEpiC	eye:	n/a
24	chr19:56274428-56274478	HMEC	breast:	n/a
25	chr19:56274428-56274478	MCF10A-Er-Src	breast:	n/a
26	chr19:56274428-56274478	HRCEpiC	kidney:	n/a
27	chr19:56274428-56274478	H1-hESC	embryonic stem cell:	embryo
28	chr19:56274428-56274478	AG04449	skin:	fetal
29	chr19:56274428-56274478	SK-N-SH_RA	brain:	n/a
30	chr19:56274428-56274478	ProgFib	skin:	n/a
31	chr19:56274428-56274478	BJ	skin:	n/a
32	chr19:56274428-56274478	A549	lung:	n/a
33	chr19:56274428-56274478	HCPEpiC	choroid plexus:	n/a
34	chr19:56274428-56274478	MCF-7	breast:	n/a
35	chr19:56274428-56274478	SAEC	small airway:	n/a
36	chr19:56274428-56274478	HEK293	kidney:	embryo
37	chr19:56274428-56274478	HIPEpiC	eye:	n/a
38	chr19:56274428-56274478	AoSMC	blood vessel:	n/a
39	chr19:56274428-56274478	NT2-D1	testis:	n/a
40	chr19:56274428-56274478	PANC-1	pancreas:	n/a
41	chr19:56274428-56274478	HL-60	blood:	n/a
42	chr19:56274428-56274478	SKMC	muscle:	n/a
43	chr19:56274428-56274478	HRE	kidney:	n/a
44	chr19:56274428-56274478	U87	brain:	n/a
45	chr19:56274428-56274478	IMR90	lung:	fetal
46	chr19:56274428-56274478	T-47D	breast:	n/a
47	chr19:56274428-56274478	Hepatocyte	liver:	n/a
48	chr19:56274428-56274478	NHBE	bronchial:	n/a
49	chr19:56274428-56274478	RPTEC	kidney:	n/a
50	chr19:56274428-56274478	GM19239	blood:	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	chr19:56271991..56273573-chr19:56281048..56283702,2	K562	blood:

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: 392 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10415942	chr19:56271310-56271311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10417100	chr19:56271320-56271321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144182181	chr19:56271325-56271326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56325908	chr19:56271346-56271347	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs56313569	chr19:56271357-56271358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10415985	chr19:56271361-56271362	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574933531	chr19:56271376-56271377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575159791	chr19:56271384-56271385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544121506	chr19:56271394-56271395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554120942	chr19:56271426-56271427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574127335	chr19:56271436-56271437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539939520	chr19:56271460-56271461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560238920	chr19:56271481-56271482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576865545	chr19:56271482-56271483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546340537	chr19:56271496-56271497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563092872	chr19:56271533-56271534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142949260	chr19:56271554-56271555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368542968	chr19:56271570-56271571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548929578	chr19:56271612-56271613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183008724	chr19:56271613-56271614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527725195	chr19:56271619-56271620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114665059	chr19:56271622-56271623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570878853	chr19:56271625-56271626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536451772	chr19:56271633-56271634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151090093	chr19:56271645-56271646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551923111	chr19:56271669-56271670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10416288	chr19:56271674-56271675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537732793	chr19:56271675-56271676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372375989	chr19:56271681-56271682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574344679	chr19:56271683-56271684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186795274	chr19:56271712-56271713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527723436	chr19:56271736-56271737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552597818	chr19:56271799-56271800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553496159	chr19:56271828-56271829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576840205	chr19:56271830-56271831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564423730	chr19:56271838-56271839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545604285	chr19:56271887-56271888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531513925	chr19:56271898-56271899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374002167	chr19:56271903-56271904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576745596	chr19:56271915-56271916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542532155	chr19:56271938-56271939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191637989	chr19:56271988-56271989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375362120	chr19:56272010-56272011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527981450	chr19:56272015-56272016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141020748	chr19:56272016-56272017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145170091	chr19:56272026-56272027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533443673	chr19:56272053-56272054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369271759	chr19:56272058-56272059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568700339	chr19:56272059-56272060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11879103	chr19:56272068-56272069	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:8 , 50 per page) page: 1

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

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