Variant report

Variant	nsv578960
Chromosome Location	chr19:21751843-21754689
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	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
3	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
4	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
5	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
6	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
7	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
8	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
9	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
10	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
11	MAFK	chr19:21753996-21754009	K562	blood:	n/a	n/a
12	MAX	chr19:21752172-21752173	NB4	blood:	n/a	n/a
13	MAZ	chr19:21751797-21752330	IMR90	lung:	n/a	n/a
14	NFYA	chr19:21751948-21752166	K562	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752100-21752118 chr19:21752105-21752119
15	NFYB	chr19:21751859-21752289	K562	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752105-21752119
16	NFYB	chr19:21751951-21752188	GM12878	blood:	n/a	chr19:21752106-21752119 chr19:21752107-21752117 chr19:21752078-21752088 chr19:21752105-21752119
17	POLR2A	chr19:21751779-21752078	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:21751780-21752008	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:21751776-21752042	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:21752117-21752311	GM12891	blood:	n/a	n/a
21	POLR2A	chr19:21751821-21751998	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:21751812-21752423	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:21751759-21752117	GM12891	blood:	n/a	n/a
24	POLR2A	chr19:21752137-21752281	ProgFib	skin:	n/a	n/a
25	POLR2A	chr19:21751831-21751995	A549	lung:	n/a	n/a
26	POLR2A	chr19:21751779-21752014	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr19:21752460-21752495	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:21751771-21752191	GM12892	blood:	n/a	n/a
29	POLR2A	chr19:21751770-21752175	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:21751812-21752372	Raji	blood:	n/a	n/a
31	POLR2A	chr19:21751655-21752026	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:21751720-21752289	MCF-7	breast:	n/a	n/a
33	POLR2A	chr19:21751832-21751986	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr19:21751702-21752696	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr19:21751712-21752114	ProgFib	skin:	n/a	n/a
36	POLR2A	chr19:21751548-21752730	PBDE	blood:	n/a	n/a
37	POLR2A	chr19:21751844-21751972	A549	lung:	n/a	n/a
38	POLR2A	chr19:21751706-21752653	MCF-7	breast:	n/a	n/a
39	POLR2A	chr19:21751697-21752184	GM12891	blood:	n/a	n/a
40	POLR2A	chr19:21751785-21752030	GM12892	blood:	n/a	n/a
41	POLR2A	chr19:21751782-21752056	GM12891	blood:	n/a	n/a
42	POLR2A	chr19:21751828-21751988	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr19:21751845-21751977	HepG2	liver:	n/a	n/a
44	POLR2A	chr19:21751475-21752310	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:21751868-21751966	A549	lung:	n/a	n/a
46	POLR2A	chr19:21751712-21752254	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:21751841-21752007	GM12878	blood:	n/a	n/a
48	POLR2A	chr19:21752009-21752030	Gliobla	brain:	n/a	n/a
49	POU2F2	chr19:21751757-21752322	GM12891	blood:	n/a	n/a
50	RXRA	chr19:21753061-21753420	HepG2	liver:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 196 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11085467	chr19:21751843-21751844	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs73025873	chr19:21751847-21751848	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs568155294	chr19:21751848-21751849	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs11085468	chr19:21751889-21751890	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs76475343	chr19:21751895-21751896	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs539382711	chr19:21751908-21751909	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142994406	chr19:21751936-21751937	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
8	rs575998342	chr19:21751977-21751978	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
9	rs4809135	chr19:21751988-21751989	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	mRNA abundance
10	rs147229255	chr19:21751996-21751997	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
11	rs139614387	chr19:21752004-21752005	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555572196	chr19:21752007-21752008	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
13	rs4808279	chr19:21752009-21752010	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs73025877	chr19:21752023-21752024	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
15	rs552691700	chr19:21752024-21752025	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
16	rs541244511	chr19:21752040-21752041	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs553566245	chr19:21752046-21752047	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs73025880	chr19:21752057-21752058	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs73025883	chr19:21752077-21752078	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs578228403	chr19:21752078-21752079	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545691370	chr19:21752114-21752115	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144533425	chr19:21752119-21752120	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148433320	chr19:21752129-21752130	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531293882	chr19:21752135-21752136	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543443447	chr19:21752137-21752138	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561622925	chr19:21752138-21752139	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs73550345	chr19:21752141-21752142	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112642966	chr19:21752145-21752146	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs73025886	chr19:21752174-21752175	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76378621	chr19:21752197-21752198	Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs73025888	chr19:21752209-21752210	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs202205404	chr19:21752212-21752213	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs74834061	chr19:21752213-21752214	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565504051	chr19:21752214-21752215	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs374098942	chr19:21752220-21752221	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs78333923	chr19:21752230-21752231	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs114428407	chr19:21752239-21752240	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73025890	chr19:21752256-21752257	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs73025891	chr19:21752264-21752265	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs183447255	chr19:21752283-21752284	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537048233	chr19:21752292-21752293	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs73929328	chr19:21752309-21752310	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375879980	chr19:21752337-21752338	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs386807806	chr19:21752338-21752339	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148131891	chr19:21752340-21752341	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375254405	chr19:21752341-21752342	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113001757	chr19:21752343-21752344	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs73025893	chr19:21752364-21752365	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs574056659	chr19:21752384-21752385	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73025894	chr19:21752408-21752409	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:21750200-21752600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:21750400-21752800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr19:21750400-21752800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:21750400-21752800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr19:21750400-21752800	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:21750400-21752800	Active TSS	Right Ventricle	heart
8	chr19:21750400-21753200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:21750600-21752800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:21750600-21752800	Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:21750800-21752400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:21750800-21752400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr19:21750800-21752800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:21750800-21752800	Active TSS	Primary T cells from cord blood	blood
15	chr19:21750800-21752800	Active TSS	Adipose Nuclei	Adipose
16	chr19:21750800-21752800	Active TSS	Fetal Lung	lung
17	chr19:21750800-21752800	Active TSS	Thymus	Thymus
18	chr19:21750800-21753200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:21751000-21752800	Active TSS	Brain Germinal Matrix	brain
20	chr19:21751000-21752800	Active TSS	Fetal Kidney	kidney
21	chr19:21751200-21752800	Active TSS	Fetal Intestine Small	intestine
22	chr19:21751200-21752800	Active TSS	Fetal Stomach	stomach
23	chr19:21751200-21752800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr19:21751200-21753000	Active TSS	Stomach Smooth Muscle	stomach
25	chr19:21751400-21752000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:21751400-21752000	Active TSS	Fetal Heart	heart
27	chr19:21751400-21752200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:21751400-21752200	ZNF genes & repeats	Left Ventricle	heart
29	chr19:21751400-21752600	Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr19:21751400-21752600	Active TSS	Primary hematopoietic stem cells	blood
31	chr19:21751400-21752600	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr19:21751400-21752600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr19:21751400-21752800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr19:21751400-21752800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:21751400-21752800	ZNF genes & repeats	Fetal Brain Female	brain
36	chr19:21751400-21752800	Active TSS	Fetal Intestine Large	intestine
37	chr19:21751400-21752800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:21751400-21752800	Active TSS	Fetal Muscle Trunk	muscle
39	chr19:21751400-21752800	Active TSS	HSMMtube	muscle
40	chr19:21751400-21752800	Active TSS	NHLF	lung
41	chr19:21751600-21752000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr19:21751600-21752000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:21751600-21752000	ZNF genes & repeats	Fetal Brain Male	brain
44	chr19:21751600-21752000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr19:21751600-21752000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr19:21751600-21752000	Active TSS	Small Intestine	intestine
47	chr19:21751600-21752000	Active TSS	Stomach Mucosa	stomach
48	chr19:21751600-21752200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr19:21751600-21752200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr19:21751600-21752200	ZNF genes & repeats	Esophagus	oesophagus

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