Variant report

Variant	esv3440323
Chromosome Location	chr19:23442234-23442679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:23442238-23443040	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:23442506-23442757	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:23442501-23442722	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr19:23442307-23442643	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:23441982-23442309	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:23441594-23443040	HepG2	liver:	n/a	n/a
7	POLR2A	chr19:23441099-23443137	H1-hESC	embryonic stem cell:	n/a	n/a
8	RCOR1	chr19:23442578-23442583	HepG2	liver:	n/a	n/a
9	SPI1	chr19:23442605-23443033	HL-60	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092329.1-1	chr19:23437856-23442918	NONHSAT063867
2	lnc-AC092329.1-1	chr19:23441006-23443055	XLOC_013274
3	lnc-AC092329.1-1	chr19:23437856-23442918	NONHSAT063866
4	lnc-AC092329.1-1	chr19:23440403-23442918	XLOC_013274
5	lnc-AC092329.1-1	chr19:23441500-23442918	XLOC_013274
6	lnc-AC092329.1-1	chr19:23441500-23442918	NONHSAT063868

No data

Variant related genes	Relation type
ENSG00000269837	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35424565	chr19:23442244-23442245	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs76081329	chr19:23442245-23442246	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs368208500	chr19:23442246-23442247	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs374866185	chr19:23442249-23442250	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs375130477	chr19:23442283-23442284	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs111852396	chr19:23442288-23442289	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs201776807	chr19:23442302-23442303	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs549511055	chr19:23442305-23442306	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs112964107	chr19:23442314-23442315	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs567802960	chr19:23442333-23442334	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs192601371	chr19:23442341-23442342	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs201316471	chr19:23442356-23442357	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs202056589	chr19:23442357-23442358	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs397724455	chr19:23442360-23442361	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs145847528	chr19:23442369-23442370	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs185328270	chr19:23442382-23442383	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs557604060	chr19:23442416-23442417	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs575635873	chr19:23442426-23442427	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs536689779	chr19:23442432-23442433	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs554940153	chr19:23442489-23442490	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs573429309	chr19:23442495-23442496	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs189812792	chr19:23442507-23442508	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs295366	chr19:23442527-23442528	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs578088150	chr19:23442549-23442550	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs572640640	chr19:23442602-23442603	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs201438158	chr19:23442608-23442609	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs17490493	chr19:23442629-23442630	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371543096	chr19:23442679-23442680	Strong transcription Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23433200-23442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:23433200-23442400	Weak transcription	Esophagus	oesophagus
3	chr19:23433200-23442600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:23433200-23455000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:23433200-23456200	Weak transcription	Small Intestine	intestine
6	chr19:23433400-23442600	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:23433400-23450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:23433400-23455400	Weak transcription	Stomach Mucosa	stomach
9	chr19:23433400-23455800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:23433400-23456000	Weak transcription	Osteobl	bone
11	chr19:23433600-23442400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:23433600-23449400	Weak transcription	Fetal Intestine Small	intestine
13	chr19:23433600-23453800	Weak transcription	Fetal Brain Male	brain
14	chr19:23433600-23455000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:23433600-23455600	Weak transcription	Psoas Muscle	Psoas
16	chr19:23433600-23455600	Weak transcription	NHDF-Ad	bronchial
17	chr19:23433600-23455800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:23433600-23455800	Weak transcription	Right Atrium	heart
19	chr19:23433600-23455800	Weak transcription	NH-A	brain
20	chr19:23437600-23455600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr19:23438600-23450200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:23438600-23455000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:23440400-23447600	Strong transcription	Brain Germinal Matrix	brain
24	chr19:23441200-23443800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr19:23441200-23444200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:23441200-23445000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:23441200-23445200	Strong transcription	Fetal Brain Female	brain
28	chr19:23441200-23447400	Strong transcription	Thymus	Thymus
29	chr19:23441200-23447800	Strong transcription	Primary T cells from cord blood	blood
30	chr19:23441400-23442400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:23441400-23442600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:23441400-23442600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr19:23441400-23442800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:23441400-23443000	Strong transcription	Placenta	Placenta
35	chr19:23441400-23443200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:23441400-23443200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:23441400-23443200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:23441400-23443200	Strong transcription	Right Ventricle	heart
39	chr19:23441400-23443200	ZNF genes & repeats	A549	lung
40	chr19:23441400-23443600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:23441400-23444200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:23441400-23444200	Strong transcription	Pancreatic Islets	Pancreatic Islet
43	chr19:23441400-23444400	Strong transcription	Aorta	Aorta
44	chr19:23441400-23444400	Strong transcription	Fetal Intestine Large	intestine
45	chr19:23441400-23444400	Strong transcription	Fetal Lung	lung
46	chr19:23441400-23444400	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:23441400-23444600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:23441400-23444600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:23441400-23444600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:23441400-23444600	Strong transcription	Fetal Muscle Trunk	muscle

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