Variant report

Variant	nsv963140
Chromosome Location	chr19:22801261-22812161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:549)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:22811160-22811179	A549	lung:	n/a	n/a
2	CEBPB	chr19:22804652-22804876	K562	blood:	n/a	n/a
3	CEBPB	chr19:22811067-22811267	HepG2	liver:	n/a	n/a
4	CEBPD	chr19:22804737-22805006	K562	blood:	n/a	n/a
5	CTCF	chr19:22806020-22806170	NHEK	skin:	n/a	chr19:22806090-22806100
6	CTCF	chr19:22806000-22806150	WERI-Rb-1	eye:	n/a	chr19:22806090-22806100
7	CTCF	chr19:22806058-22806085	Fibrobl	skin:	n/a	n/a
8	CTCF	chr19:22805960-22806110	WERI-Rb-1	eye:	n/a	chr19:22806090-22806100
9	CTCF	chr19:22806020-22806085	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr19:22806000-22806150	SK-N-SH_RA	brain:	n/a	chr19:22806090-22806100
11	CTCF	chr19:22806480-22806630	NHEK	skin:	n/a	n/a
12	CTCF	chr19:22805940-22806090	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr19:22806260-22806410	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr19:22803008-22803113	Lung_OC	lung:	n/a	n/a
15	GATA3	chr19:22808383-22808571	SH-SY5Y	brain:	n/a	chr19:22808534-22808544 chr19:22808534-22808543
16	MAFF	chr19:22804864-22805168	HepG2	liver:	n/a	chr19:22804974-22804992
17	MAFK	chr19:22804847-22805150	IMR90	lung:	n/a	chr19:22804976-22804991
18	MAFK	chr19:22804908-22805095	HepG2	liver:	n/a	chr19:22804976-22804991
19	MAFK	chr19:22804806-22805161	HepG2	liver:	n/a	chr19:22804976-22804991
20	MYC	chr19:22810784-22810921	NB4	blood:	n/a	n/a
21	MYC	chr19:22811387-22811406	MCF-7	breast:	n/a	n/a
22	MYC	chr19:22811412-22811540	H1-hESC	embryonic stem cell:	n/a	n/a
23	NR2F2	chr19:22804665-22804955	K562	blood:	n/a	n/a
24	NR2F2	chr19:22804685-22804916	K562	blood:	n/a	n/a
25	POLR2A	chr19:22808350-22808375	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:22811440-22811443	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:22811457-22811470	MCF-7	breast:	n/a	n/a
28	SPI1	chr19:22804576-22804753	GM12891	blood:	n/a	n/a
29	STAT5A	chr19:22804673-22805019	K562	blood:	n/a	n/a
30	STAT5A	chr19:22804635-22804972	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22804548-22804598	AG10803	skin:	n/a
2	chr19:22805803-22805853	SK-N-SH	brain:	n/a
3	chr19:22807010-22807060	K562	blood:	n/a
4	chr19:22806647-22806697	SKMC	muscle:	n/a
5	chr19:22803398-22803448	Hepatocyte	liver:	n/a
6	chr19:22809024-22809074	IMR90	lung:	fetal
7	chr19:22806448-22806498	Hela-S3	cervix:	n/a
8	chr19:22804548-22804598	K562	blood:	n/a
9	chr19:22807010-22807060	HCPEpiC	choroid plexus:	n/a
10	chr19:22803398-22803448	AG04449	skin:	fetal
11	chr19:22806184-22806234	SKMC	muscle:	n/a
12	chr19:22804548-22804598	Hela-S3	cervix:	n/a
13	chr19:22806448-22806498	GM12878	blood:	n/a
14	chr19:22806647-22806697	K562	blood:	n/a
15	chr19:22806448-22806498	AG04450	lung:	fetal
16	chr19:22806647-22806697	HRPEpiC	eye:	n/a
17	chr19:22809024-22809074	ProgFib	skin:	n/a
18	chr19:22805801-22805851	GM12878	blood:	n/a
19	chr19:22804548-22804598	SAEC	small airway:	n/a
20	chr19:22809024-22809074	GM19239	blood:	n/a
21	chr19:22806647-22806697	SK-N-SH	brain:	n/a
22	chr19:22805801-22805851	HEK293	kidney:	embryo
23	chr19:22803398-22803448	CMK	blood:	n/a
24	chr19:22805801-22805851	HCT-116	colon:	n/a
25	chr19:22805801-22805851	AG10803	skin:	n/a
26	chr19:22809024-22809074	SK-N-SH	brain:	n/a
27	chr19:22804548-22804598	SK-N-SH	brain:	n/a
28	chr19:22805803-22805853	ovcar-3	ovarian:	n/a
29	chr19:22806647-22806697	MCF-7	breast:	n/a
30	chr19:22806184-22806234	HEEpiC	esophagus:	n/a
31	chr19:22806647-22806697	BE2_C	brain:	n/a
32	chr19:22803398-22803448	ECC-1	luminal epithelium:	n/a
33	chr19:22805801-22805851	HMEC	breast:	n/a
34	chr19:22807010-22807060	NB4	blood:	n/a
35	chr19:22809024-22809074	HL-60	blood:	n/a
36	chr19:22805803-22805853	HRPEpiC	eye:	n/a
37	chr19:22804548-22804598	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:22804548-22804598	HIPEpiC	eye:	n/a
39	chr19:22809024-22809074	HRCEpiC	kidney:	n/a
40	chr19:22806448-22806498	GM12891	blood:	n/a
41	chr19:22806647-22806697	GM19239	blood:	n/a
42	chr19:22807010-22807060	ProgFib	skin:	n/a
43	chr19:22803398-22803448	NHDF-neo	bronchial:	n/a
44	chr19:22803398-22803448	HepG2	liver:	n/a
45	chr19:22805803-22805853	PFSK-1	brain:	n/a
46	chr19:22806647-22806697	GM12878	blood:	n/a
47	chr19:22805801-22805851	RPTEC	kidney:	n/a
48	chr19:22805803-22805853	NHBE	bronchial:	n/a
49	chr19:22806647-22806697	HIPEpiC	eye:	n/a
50	chr19:22806448-22806498	Hepatocyte	liver:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC024563.1-1	chr19:22806659-22806773	XLOC_013269
2	lnc-AC024563.1-1	chr19:22806659-22806773	ENSG00000268038.1
3	lnc-ZNF492-4	chr19:22803285-22803526	NONHSAT063813

No data

Variant related genes	Relation type
ENSG00000268589	TF binding region
ENSG00000268038	TF binding region
ZNF492	TF binding region
ENSG00000268589	CpG island
ENSG00000268038	CpG island
ZNF492	CpG island
LASP1	miRNA target sites

Extended variants
information (count: 443 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375965678	chr19:22801264-22801265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369012494	chr19:22801270-22801271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573772990	chr19:22801285-22801286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13346450	chr19:22801310-22801311	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138950802	chr19:22801317-22801318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577570883	chr19:22801353-22801354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149429212	chr19:22801369-22801370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143790562	chr19:22801451-22801452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531170612	chr19:22801452-22801453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11673086	chr19:22801465-22801466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148135003	chr19:22801499-22801500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117368289	chr19:22801509-22801510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547473855	chr19:22801520-22801521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11883040	chr19:22801521-22801522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539436975	chr19:22801538-22801539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113872348	chr19:22801590-22801591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569833805	chr19:22801618-22801619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560898592	chr19:22801633-22801634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575887329	chr19:22801635-22801636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537276563	chr19:22801644-22801645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7258560	chr19:22801720-22801721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140060252	chr19:22801776-22801777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534798479	chr19:22801784-22801785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553049477	chr19:22801791-22801792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577657597	chr19:22801805-22801806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7258682	chr19:22801810-22801811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150813718	chr19:22801835-22801836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575871424	chr19:22801844-22801845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11883069	chr19:22801849-22801850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561475372	chr19:22801895-22801896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187122226	chr19:22801900-22801901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541173995	chr19:22801906-22801907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559480936	chr19:22801915-22801916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532988845	chr19:22801920-22801921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7258509	chr19:22801936-22801937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145579471	chr19:22801941-22801942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530726447	chr19:22801976-22801977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs33922159	chr19:22801982-22801983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549215158	chr19:22802144-22802145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527935485	chr19:22802172-22802173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567173208	chr19:22802213-22802214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111710440	chr19:22802218-22802219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539632375	chr19:22802221-22802222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534622919	chr19:22802255-22802256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567967486	chr19:22802259-22802260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28530510	chr19:22802263-22802264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115385226	chr19:22802266-22802267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571640323	chr19:22802267-22802268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538638355	chr19:22802270-22802271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368815858	chr19:22802272-22802273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22799800-22801800	Enhancers	Ovary	ovary
2	chr19:22801000-22801400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr19:22801200-22802000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr19:22801200-22805600	Weak transcription	Right Atrium	heart
5	chr19:22801400-22802400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:22801800-22802200	Weak transcription	Ovary	ovary
7	chr19:22802000-22803400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:22802200-22804600	Enhancers	Ovary	ovary
9	chr19:22802400-22803200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:22802800-22804600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:22803000-22803200	Enhancers	Brain Anterior Caudate	brain
12	chr19:22803200-22804000	Weak transcription	Brain Anterior Caudate	brain
13	chr19:22803200-22805600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr19:22803400-22803800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:22803800-22805600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr19:22804000-22804200	Enhancers	Brain Anterior Caudate	brain
17	chr19:22804200-22806200	Weak transcription	Brain Anterior Caudate	brain
18	chr19:22804600-22804800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr19:22804600-22804800	Weak transcription	Pancreas	Pancrea
20	chr19:22804600-22805600	Weak transcription	Ovary	ovary
21	chr19:22805000-22805400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:22805400-22805600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:22805400-22805600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:22805600-22805800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:22805600-22805800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr19:22805600-22805800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr19:22805600-22805800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:22805600-22805800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:22805600-22805800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr19:22805600-22805800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr19:22805600-22805800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr19:22805600-22805800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr19:22805600-22805800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr19:22805600-22806200	Active TSS	Ovary	ovary
35	chr19:22805600-22806400	Active TSS	Right Atrium	heart
36	chr19:22805600-22806400	Active TSS	Right Ventricle	heart
37	chr19:22805600-22806600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:22805600-22806600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr19:22805600-22806800	ZNF genes & repeats	Esophagus	oesophagus
40	chr19:22805600-22807000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:22805800-22806000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:22805800-22806000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr19:22805800-22806000	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr19:22805800-22806000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr19:22805800-22806000	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr19:22805800-22806200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:22805800-22806200	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr19:22805800-22806200	Active TSS	Psoas Muscle	Psoas
49	chr19:22805800-22806400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:22805800-22806400	Active TSS	Pancreatic Islets	Pancreatic Islet

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