Variant report

Variant	esv3450564
Chromosome Location	chr19:21750712-21758610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21756597-21757002	K562	blood:	n/a	n/a
2	ATF1	chr19:21756594-21757067	K562	blood:	n/a	n/a
3	ATF3	chr19:21756520-21757045	K562	blood:	n/a	n/a
4	BHLHE40	chr19:21756673-21757583	K562	blood:	n/a	n/a
5	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
6	CEBPB	chr19:21750847-21750982	K562	blood:	n/a	n/a
7	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
8	CEBPB	chr19:21756463-21757311	K562	blood:	n/a	n/a
9	CEBPB	chr19:21750808-21751049	K562	blood:	n/a	n/a
10	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
11	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr19:21756465-21757280	K562	blood:	n/a	n/a
13	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
14	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
15	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
16	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
17	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
18	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
19	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
20	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
21	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
22	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
23	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
24	FOXA2	chr19:21750825-21751193	A549	lung:	n/a	n/a
25	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
26	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
27	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
28	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
29	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
30	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
31	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
32	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
33	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
34	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628
35	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
36	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
37	JUN	chr19:21756635-21757045	K562	blood:	n/a	n/a
38	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
39	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
40	JUN	chr19:21756645-21757073	K562	blood:	n/a	n/a
41	JUN	chr19:21756642-21756999	K562	blood:	n/a	n/a
42	JUND	chr19:21755289-21755574	HepG2	liver:	n/a	n/a
43	JUND	chr19:21757443-21757767	HepG2	liver:	n/a	n/a
44	JUND	chr19:21756650-21756946	HepG2	liver:	n/a	chr19:21756822-21756833
45	JUND	chr19:21756547-21757438	K562	blood:	n/a	chr19:21756822-21756833
46	MAFF	chr19:21756642-21756954	K562	blood:	n/a	n/a
47	MAFK	chr19:21753996-21754009	K562	blood:	n/a	n/a
48	MAFK	chr19:21756634-21756959	K562	blood:	n/a	n/a
49	MAX	chr19:21752172-21752173	NB4	blood:	n/a	n/a
50	MAX	chr19:21756655-21757093	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-3	chr19:21751906-21752048	XLOC_013263
2	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
3	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726
4	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
5	lnc-ZNF100-3	chr19:21751906-21752039	ENSG00000268081.1
6	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 532 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375025023	chr19:21750726-21750727	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs143131149	chr19:21750728-21750729	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs36161008	chr19:21750731-21750732	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs185439493	chr19:21750747-21750748	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs190151483	chr19:21750766-21750767	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs140173594	chr19:21750772-21750773	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs537796639	chr19:21750778-21750779	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs144000980	chr19:21750787-21750788	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs529588051	chr19:21750882-21750883	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370681940	chr19:21750936-21750937	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548154017	chr19:21750938-21750939	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs566308743	chr19:21750939-21750940	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533790634	chr19:21750964-21750965	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs375110162	chr19:21750981-21750982	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs146412828	chr19:21750982-21750983	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368062022	chr19:21751021-21751022	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs373646382	chr19:21751027-21751028	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372155929	chr19:21751040-21751041	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141440622	chr19:21751048-21751049	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181422413	chr19:21751078-21751079	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574700312	chr19:21751082-21751083	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145138665	chr19:21751103-21751104	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs74167860	chr19:21751144-21751145	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs572301596	chr19:21751145-21751146	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542096753	chr19:21751155-21751156	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs367826085	chr19:21751161-21751162	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372296658	chr19:21751193-21751194	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376728813	chr19:21751204-21751205	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148992091	chr19:21751206-21751207	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564228003	chr19:21751236-21751237	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541030594	chr19:21751257-21751258	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576172602	chr19:21751278-21751279	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369464704	chr19:21751285-21751286	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11085463	chr19:21751302-21751303	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs10854048	chr19:21751314-21751315	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs78943207	chr19:21751322-21751323	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369159301	chr19:21751347-21751348	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529504410	chr19:21751379-21751380	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547743582	chr19:21751384-21751385	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs10854049	chr19:21751396-21751397	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs527270089	chr19:21751416-21751417	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10854050	chr19:21751448-21751449	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs147247935	chr19:21751474-21751475	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369299007	chr19:21751483-21751484	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75155667	chr19:21751493-21751494	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549866912	chr19:21751529-21751530	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10854051	chr19:21751578-21751579	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs186707118	chr19:21751581-21751582	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370717861	chr19:21751611-21751612	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs572047466	chr19:21751660-21751661	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:21738600-21751600	Weak transcription	Osteobl	bone
3	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:21746600-21751200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
8	chr19:21746800-21750800	Weak transcription	Fetal Lung	lung
9	chr19:21747200-21751200	Weak transcription	Fetal Stomach	stomach
10	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
11	chr19:21749000-21751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:21749200-21750800	Weak transcription	Fetal Heart	heart
14	chr19:21749400-21750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:21750200-21750800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:21750200-21750800	Active TSS	Brain Anterior Caudate	brain
18	chr19:21750200-21750800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr19:21750200-21750800	Active TSS	Brain Substantia Nigra	brain
20	chr19:21750200-21750800	Active TSS	Pancreas	Pancrea
21	chr19:21750200-21750800	Active TSS	Psoas Muscle	Psoas
22	chr19:21750200-21750800	Active TSS	Right Atrium	heart
23	chr19:21750200-21752600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:21750400-21750800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr19:21750400-21750800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr19:21750400-21750800	Active TSS	Primary B cells from cord blood	blood
27	chr19:21750400-21750800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr19:21750400-21750800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr19:21750400-21750800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr19:21750400-21750800	Active TSS	Brain Cingulate Gyrus	brain
31	chr19:21750400-21752800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:21750400-21752800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:21750400-21752800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr19:21750400-21752800	Active TSS	Rectal Smooth Muscle	rectum
35	chr19:21750400-21752800	Active TSS	Right Ventricle	heart
36	chr19:21750400-21753200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr19:21750600-21750800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:21750600-21750800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:21750600-21750800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr19:21750600-21750800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr19:21750600-21750800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr19:21750600-21750800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:21750600-21750800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:21750600-21750800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:21750600-21750800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr19:21750600-21750800	ZNF genes & repeats	Liver	Liver
47	chr19:21750600-21750800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr19:21750600-21750800	Enhancers	Colonic Mucosa	Colon
49	chr19:21750600-21750800	Flanking Active TSS	Esophagus	oesophagus
50	chr19:21750600-21750800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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