Variant report

Variant	esv1792699
Chromosome Location	chr19:56931672-56950997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr19:56934943-56935689	K562	blood:	n/a	n/a
2	CBX3	chr19:56934598-56934867	K562	blood:	n/a	n/a
3	CEBPB	chr19:56935297-56935563	K562	blood:	n/a	chr19:56935376-56935387
4	CEBPB	chr19:56935273-56935539	A549	lung:	n/a	chr19:56935376-56935387
5	CEBPB	chr19:56935314-56935541	HepG2	liver:	n/a	chr19:56935376-56935387
6	ETS1	chr19:56934640-56935108	A549	lung:	n/a	n/a
7	ETS1	chr19:56935177-56935704	A549	lung:	n/a	n/a
8	ETS1	chr19:56935264-56935501	GM12878	blood:	n/a	n/a
9	GATA3	chr19:56934281-56936176	A549	lung:	n/a	n/a
10	GATA3	chr19:56931827-56931976	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr19:56934846-56935190	A549	lung:	n/a	n/a
12	JUN	chr19:56935242-56935579	K562	blood:	n/a	n/a
13	KAP1	chr19:56934510-56935864	U2OS	brain:	n/a	n/a
14	KAP1	chr19:56934013-56936496	K562	blood:	n/a	n/a
15	KAP1	chr19:56934451-56936290	HEK293	kidney:	n/a	n/a
16	KAP1	chr19:56931690-56932215	K562	blood:	n/a	n/a
17	MAFF	chr19:56934956-56935026	HepG2	liver:	n/a	chr19:56934956-56934974
18	MAFF	chr19:56948937-56948961	HepG2	liver:	n/a	n/a
19	MAFK	chr19:56948832-56949119	HepG2	liver:	n/a	n/a
20	MAFK	chr19:56948953-56949010	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:56935154-56935707	HL-60	blood:	n/a	n/a
22	POLR2A	chr19:56936393-56936518	K562	blood:	n/a	n/a
23	POLR2A	chr19:56937281-56937464	K562	blood:	n/a	n/a
24	POLR2A	chr19:56941299-56941425	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr19:56950992-56951157	A549	lung:	n/a	n/a
26	POLR2A	chr19:56938454-56938490	ProgFib	skin:	n/a	n/a
27	POLR2A	chr19:56942774-56943218	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr19:56942129-56942567	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr19:56935625-56935820	K562	blood:	n/a	n/a
30	SETDB1	chr19:56933289-56937313	K562	blood:	n/a	n/a
31	SETDB1	chr19:56934226-56936701	U2OS	brain:	n/a	n/a
32	SETDB1	chr19:56937212-56938054	U2OS	brain:	n/a	n/a
33	SPI1	chr19:56944959-56945324	HL-60	blood:	n/a	n/a
34	SPI1	chr19:56944902-56945336	HL-60	blood:	n/a	n/a
35	STAT3	chr19:56937186-56937402	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr19:56936323-56936522	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr19:56934428-56934565	MCF10A-Er-Src	breast:	n/a	n/a
38	TCF12	chr19:56934639-56935817	A549	lung:	n/a	n/a
39	TCF12	chr19:56934487-56936169	A549	lung:	n/a	n/a
40	TRIM28	chr19:56934513-56935783	K562	blood:	n/a	n/a
41	USF1	chr19:56935323-56935669	ECC-1	luminal epithelium:	n/a	n/a
42	USF1	chr19:56935124-56935721	A549	lung:	n/a	n/a
43	USF1	chr19:56934940-56935748	ECC-1	luminal epithelium:	n/a	n/a
44	ZNF143	chr19:56934668-56935687	K562	blood:	n/a	n/a
45	ZNF143	chr19:56934673-56935700	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr19:56935370-56935617	GM12878	blood:	n/a	n/a
47	ZNF274	chr19:56934334-56936135	K562	blood:	n/a	n/a
48	ZNF274	chr19:56934437-56936184	GM12878	blood:	n/a	n/a
49	ZNF274	chr19:56931641-56932029	K562	blood:	n/a	n/a
50	ZNF274	chr19:56934241-56936184	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56936048..56938748-chr19:56941808..56944257,2	K562	blood:
2	chr19:56936048..56938748-chr19:56941808..56944257,2	K562	blood:
3	chr19:56922748..56925351-chr19:56930754..56933374,2	K562	blood:
4	chr19:56913953..56915717-chr19:56929673..56932216,2	K562	blood:
5	chr19:56936048..56937864-chr19:56941808..56944058,2	K562	blood:
6	chr19:56928898..56932035-chr19:56933505..56936936,3	K562	blood:
7	chr19:56936048..56937864-chr19:56941808..56944058,2	K562	blood:

No data

Variant related genes	Relation type
ZNF583	TF binding region
ENSG00000198440	chromatin interactions

Extended variants
information (count: 692 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:692 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs917650	chr19:56931672-56931673	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181320450	chr19:56931673-56931674	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533470780	chr19:56931715-56931716	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186734388	chr19:56931723-56931724	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191176369	chr19:56931759-56931760	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538114482	chr19:56931789-56931790	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548219996	chr19:56931806-56931807	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568233889	chr19:56931836-56931837	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs144086668	chr19:56931906-56931907	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553934798	chr19:56931923-56931924	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182081189	chr19:56931954-56931955	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555684926	chr19:56931955-56931956	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs367858556	chr19:56931965-56931966	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185799836	chr19:56931968-56931969	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190937930	chr19:56932011-56932012	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575660576	chr19:56932208-56932209	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183132576	chr19:56932330-56932331	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542063038	chr19:56932336-56932337	ZNF genes & repeats Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186663840	chr19:56932426-56932427	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572600456	chr19:56932427-56932428	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541221994	chr19:56932451-56932452	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564681070	chr19:56932456-56932457	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533433638	chr19:56932474-56932475	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543960820	chr19:56932491-56932492	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190872653	chr19:56932505-56932506	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76834062	chr19:56932525-56932526	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548459238	chr19:56932550-56932551	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114333452	chr19:56932551-56932552	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114562207	chr19:56932600-56932601	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182533040	chr19:56932606-56932607	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527592931	chr19:56932610-56932611	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547240110	chr19:56932632-56932633	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148619724	chr19:56932643-56932644	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200121363	chr19:56932661-56932662	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201066157	chr19:56932662-56932663	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202159320	chr19:56932663-56932664	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6146568	chr19:56932664-56932665	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs79714059	chr19:56932665-56932666	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201180976	chr19:56932668-56932669	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs202082597	chr19:56932669-56932670	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570333572	chr19:56932712-56932713	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544266534	chr19:56932728-56932729	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs115808766	chr19:56932798-56932799	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561023882	chr19:56932872-56932873	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535152309	chr19:56932885-56932886	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555348575	chr19:56932992-56932993	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs148635821	chr19:56933006-56933007	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541728801	chr19:56933052-56933053	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558359885	chr19:56933091-56933092	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs142119384	chr19:56933099-56933100	ZNF genes & repeats Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56916000-56938600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:56916400-56936600	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr19:56916400-56956000	ZNF genes & repeats	Liver	Liver
4	chr19:56916600-56935600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:56916600-56956000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:56916800-56936200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:56917000-56937000	ZNF genes & repeats	Fetal Lung	lung
9	chr19:56917000-56938800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:56917000-56940000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:56917200-56935800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:56917200-56936600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr19:56917200-56936600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr19:56917200-56937600	ZNF genes & repeats	Fetal Brain Female	brain
15	chr19:56917400-56944800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:56917600-56939400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:56918200-56935000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
18	chr19:56918200-56936000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:56918200-56937600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:56918200-56938400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:56918200-56940000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr19:56918200-56940600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr19:56918200-56943400	ZNF genes & repeats	Brain Anterior Caudate	brain
24	chr19:56918400-56935200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr19:56918400-56935600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr19:56918400-56936600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr19:56918400-56938600	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr19:56918400-56942800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr19:56918400-56945400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr19:56926200-56934200	Weak transcription	Fetal Thymus	thymus
31	chr19:56927200-56932800	Weak transcription	Thymus	Thymus
32	chr19:56927600-56932400	Weak transcription	Aorta	Aorta
33	chr19:56927600-56932800	Weak transcription	Fetal Stomach	stomach
34	chr19:56927800-56936400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr19:56928000-56935800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr19:56928000-56935800	ZNF genes & repeats	Dnd41	blood
37	chr19:56928000-56936000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:56928000-56936000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
39	chr19:56928000-56936200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr19:56928000-56936600	ZNF genes & repeats	Fetal Kidney	kidney
41	chr19:56928200-56939800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:56928400-56937800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr19:56928800-56932600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:56929200-56936600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr19:56929800-56932400	Weak transcription	Gastric	stomach
46	chr19:56929800-56933000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:56930200-56932800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:56930600-56932400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:56930800-56935600	ZNF genes & repeats	Ovary	ovary
50	chr19:56930800-56937000	ZNF genes & repeats	HSMM	muscle

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