Variant report

Variant	nsv543943
Chromosome Location	chr19:21713945-21759080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

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	BHLHE40	chr19:21748929-21749238	K562	blood:	n/a	chr19:21749052-21749073 chr19:21749056-21749069
6	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
7	CEBPB	chr19:21740957-21741100	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr19:21756463-21757311	K562	blood:	n/a	n/a
9	CEBPB	chr19:21715858-21715920	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr19:21750847-21750982	K562	blood:	n/a	n/a
11	CEBPB	chr19:21750808-21751049	K562	blood:	n/a	n/a
12	CEBPB	chr19:21715804-21716043	K562	blood:	n/a	n/a
13	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
14	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
15	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr19:21756465-21757280	K562	blood:	n/a	n/a
17	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
18	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
19	CTCF	chr19:21730338-21730424	GM20000	blood:	n/a	n/a
20	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
21	CTCF	chr19:21742240-21742390	GM12870	blood:	n/a	n/a
22	CTCF	chr19:21732116-21732154	LNCaP	prostate:	n/a	n/a
23	CTCF	chr19:21722985-21723020	LNCaP	prostate:	n/a	n/a
24	CUX1	chr19:21728751-21728757	K562	blood:	n/a	n/a
25	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
26	E2F4	chr19:21750186-21750225	MCF10A-Er-Src	breast:	n/a	n/a
27	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
28	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
29	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
30	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
31	EP300	chr19:21728894-21728954	K562	blood:	n/a	n/a
32	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
33	EP300	chr19:21749022-21749165	K562	blood:	n/a	n/a
34	FOS	chr19:21748977-21749159	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
36	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
37	FOXA2	chr19:21750825-21751193	A549	lung:	n/a	n/a
38	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
39	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
40	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
41	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
42	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
43	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
44	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
45	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
46	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
47	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
48	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
49	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
50	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
2	chr19:21687245..21689707-chr19:21740240..21743085,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-3	chr19:21744136-21747283	XLOC_013263
2	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473
3	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
4	lnc-ZNF100-3	chr19:21751906-21752039	ENSG00000268081.1
5	lnc-ZNF100-3	chr19:21737442-21737754	ENSG00000268081.1
6	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726
7	lnc-ZNF100-3	chr19:21751906-21752048	XLOC_013263
8	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
9	lnc-ZNF100-3	chr19:21748631-21748673	XLOC_013263
10	lnc-ZNF100-3	chr19:21747057-21747283	XLOC_013263

No data

Variant related genes	Relation type
ZNF429	TF binding region
ENSG00000268081	TF binding region
ENSG00000197013	chromatin interactions

Extended variants
information (count: 2486 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:2486 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527920692	chr19:21713949-21713950	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114999434	chr19:21713952-21713953	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79752668	chr19:21713989-21713990	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538545857	chr19:21713992-21713993	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368000071	chr19:21714026-21714027	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199526118	chr19:21714029-21714030	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114774832	chr19:21714042-21714043	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180773944	chr19:21714054-21714055	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185385815	chr19:21714062-21714063	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554280028	chr19:21714079-21714080	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147144055	chr19:21714135-21714136	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2562466	chr19:21714204-21714205	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs558348550	chr19:21714222-21714223	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138610238	chr19:21714245-21714246	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544501140	chr19:21714262-21714263	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562734035	chr19:21714273-21714274	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149431261	chr19:21714288-21714289	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530150897	chr19:21714317-21714318	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144863243	chr19:21714324-21714325	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148582745	chr19:21714328-21714329	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142942347	chr19:21714333-21714334	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565785610	chr19:21714360-21714361	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2681375	chr19:21714364-21714365	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs530291423	chr19:21714380-21714381	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370553678	chr19:21714382-21714383	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34302774	chr19:21714444-21714445	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571034339	chr19:21714462-21714463	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35950856	chr19:21714485-21714486	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371430283	chr19:21714493-21714494	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2359162	chr19:21714508-21714509	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs550490965	chr19:21714510-21714511	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190193242	chr19:21714562-21714563	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181519214	chr19:21714609-21714610	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113511822	chr19:21714615-21714616	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547276040	chr19:21714616-21714617	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566924493	chr19:21714618-21714619	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs58307608	chr19:21714622-21714623	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76062381	chr19:21714627-21714628	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs397960295	chr19:21714628-21714629	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547802803	chr19:21714771-21714772	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566194115	chr19:21714793-21714794	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533648499	chr19:21714801-21714802	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs2562468	chr19:21714850-21714851	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs577018348	chr19:21714910-21714911	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs80232995	chr19:21714912-21714913	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146116961	chr19:21714936-21714937	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs558760760	chr19:21715049-21715050	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs59749225	chr19:21715058-21715059	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574722063	chr19:21715059-21715060	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs2056318	chr19:21715060-21715061	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:41)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21699600-21720800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21699600-21727600	ZNF genes & repeats	Liver	Liver
3	chr19:21701000-21733400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:21701600-21720400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:21702400-21721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21702600-21717200	Weak transcription	Psoas Muscle	Psoas
7	chr19:21702800-21717200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:21702800-21718600	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:21702800-21718600	Weak transcription	Fetal Heart	heart
10	chr19:21704000-21714600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr19:21704000-21717200	Weak transcription	NHDF-Ad	bronchial
12	chr19:21704400-21714400	Strong transcription	Primary T cells from cord blood	blood
13	chr19:21705000-21714200	Weak transcription	Fetal Thymus	thymus
14	chr19:21705000-21718600	Weak transcription	HSMM	muscle
15	chr19:21706400-21714000	Weak transcription	Osteobl	bone
16	chr19:21706400-21717200	Weak transcription	K562	blood
17	chr19:21707000-21714000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr19:21707000-21719000	Weak transcription	Stomach Mucosa	stomach
19	chr19:21708200-21716200	Strong transcription	Dnd41	blood
20	chr19:21708200-21717400	Strong transcription	Placenta	Placenta
21	chr19:21709000-21722800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:21709600-21716800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr19:21709600-21717200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:21710400-21714600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:21710600-21717200	Weak transcription	NH-A	brain
26	chr19:21711600-21715600	Strong transcription	Adipose Nuclei	Adipose
27	chr19:21711600-21716400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:21711600-21720400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr19:21711800-21714200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:21711800-21717400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:21712000-21715000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:21712000-21719200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:21712200-21714400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:21712200-21714600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:21712200-21716800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:21712400-21714000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr19:21712400-21714400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:21712400-21714400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:21712400-21720400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
40	chr19:21712600-21714600	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr19:21712600-21715000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr19:21712600-21716200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr19:21712600-21716600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr19:21712600-21720200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr19:21713000-21714200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr19:21713000-21715200	Strong transcription	Fetal Lung	lung
47	chr19:21713200-21714200	ZNF genes & repeats	Spleen	Spleen
48	chr19:21713200-21714400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr19:21713200-21717200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:21713400-21714000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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