Variant report

Variant	nsv578962
Chromosome Location	chr19:21752985-21754742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
2	MAFK	chr19:21753996-21754009	K562	blood:	n/a	n/a
3	RXRA	chr19:21753061-21753420	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473
2	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
3	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1
4	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4809136	chr19:21752985-21752986	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549023138	chr19:21753008-21753009	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs12327638	chr19:21753035-21753036	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs534714015	chr19:21753056-21753057	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs372760964	chr19:21753085-21753086	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs67876192	chr19:21753089-21753090	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs571812465	chr19:21753098-21753099	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs539229796	chr19:21753141-21753142	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs572389967	chr19:21753144-21753145	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs73027708	chr19:21753164-21753165	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs73929332	chr19:21753171-21753172	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs192023072	chr19:21753178-21753179	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs575830372	chr19:21753179-21753180	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs140588345	chr19:21753180-21753181	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs140814064	chr19:21753191-21753192	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs77547293	chr19:21753202-21753203	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs554985665	chr19:21753211-21753212	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs528455872	chr19:21753236-21753237	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs548305075	chr19:21753259-21753260	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs552790188	chr19:21753262-21753263	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs112782755	chr19:21753276-21753277	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs182150790	chr19:21753351-21753352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs7253249	chr19:21753357-21753358	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs186752458	chr19:21753367-21753368	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs372679227	chr19:21753377-21753378	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs537345595	chr19:21753415-21753416	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs559014308	chr19:21753429-21753430	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs150636635	chr19:21753499-21753500	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs117369961	chr19:21753564-21753565	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544790201	chr19:21753570-21753571	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs12978060	chr19:21753607-21753608	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs8109940	chr19:21753622-21753623	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11882885	chr19:21753626-21753627	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549215318	chr19:21753650-21753651	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs35864944	chr19:21753653-21753654	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs112892223	chr19:21753664-21753665	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs138248211	chr19:21753666-21753667	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547064913	chr19:21753669-21753670	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs571745281	chr19:21753670-21753671	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs539166458	chr19:21753677-21753678	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs10420580	chr19:21753703-21753704	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs11880052	chr19:21753753-21753754	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191671833	chr19:21753765-21753766	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs11880057	chr19:21753811-21753812	Weak transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539679258	chr19:21753814-21753815	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs113948688	chr19:21753844-21753845	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs111658870	chr19:21753847-21753848	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552585186	chr19:21753848-21753849	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs35577645	chr19:21753849-21753850	Weak transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs386807807	chr19:21753865-21753866	Weak transcription Genic enhancers	lncRNA	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21750400-21753200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:21750800-21753200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:21751200-21753000	Active TSS	Stomach Smooth Muscle	stomach
4	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
5	chr19:21752200-21753000	Active TSS	Dnd41	blood
6	chr19:21752600-21753200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:21752600-21753400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:21752600-21753600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:21752600-21756600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:21752800-21753000	Enhancers	Fetal Intestine Small	intestine
11	chr19:21752800-21753200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr19:21752800-21753200	Enhancers	Primary T cells from cord blood	blood
13	chr19:21752800-21753200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:21752800-21753200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:21752800-21753200	Enhancers	Fetal Kidney	kidney
16	chr19:21752800-21754000	Weak transcription	Brain Germinal Matrix	brain
17	chr19:21752800-21754400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr19:21752800-21754600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:21752800-21755400	Weak transcription	Right Ventricle	heart
20	chr19:21752800-21755800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
22	chr19:21753000-21753200	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:21753000-21753400	Flanking Active TSS	Dnd41	blood
24	chr19:21753000-21753600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
25	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
26	chr19:21753200-21753400	Weak transcription	Primary T cells from cord blood	blood
27	chr19:21753200-21753400	Weak transcription	Fetal Kidney	kidney
28	chr19:21753200-21754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:21753200-21762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:21753400-21754600	Genic enhancers	Dnd41	blood
31	chr19:21753600-21756800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:21754000-21754400	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr19:21754600-21757800	Strong transcription	Dnd41	blood

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