Variant report

Variant	esv3433392
Chromosome Location	chr19:23438828-23439277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:23438592-23439755	A549	lung:	n/a	n/a
2	CEBPB	chr19:23438883-23439489	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr19:23438969-23439732	IMR90	lung:	n/a	n/a
4	CEBPB	chr19:23439051-23439385	K562	blood:	n/a	n/a
5	CEBPB	chr19:23438971-23439318	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr19:23438224-23439406	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:23438912-23439398	MCF-7	breast:	n/a	n/a
8	CEBPB	chr19:23438212-23439768	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:23438807-23439786	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:23436461-23440180	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:23439093-23439781	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:23439099-23439466	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:23439038-23439232	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr19:23437582-23439680	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr19:23436058-23440101	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:23438843-23439834	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:23438810-23439272	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr19:23438907-23439248	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr19:23438878-23439268	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr19:23438953-23439181	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr19:23439214-23439255	GM12878	blood:	n/a	n/a

No data

(count:3 , 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	chr19:23437855-23440741	NONHSAT063865
3	lnc-AC092329.1-1	chr19:23437856-23442918	NONHSAT063866

No data

Variant related genes	Relation type
ENSG00000269837	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567074934	chr19:23438828-23438829	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs295356	chr19:23438838-23438839	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559100158	chr19:23438850-23438851	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs35181038	chr19:23438862-23438863	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs200901142	chr19:23438866-23438867	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs398059630	chr19:23438868-23438869	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs201320685	chr19:23438869-23438870	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs577515788	chr19:23438880-23438881	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs544870545	chr19:23438881-23438882	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs556176733	chr19:23438921-23438922	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs186105982	chr19:23438924-23438925	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs61212858	chr19:23438934-23438935	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149472219	chr19:23439035-23439036	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs528296475	chr19:23439059-23439060	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs147143690	chr19:23439066-23439067	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs565086578	chr19:23439077-23439078	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs569915682	chr19:23439120-23439121	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs73561376	chr19:23439140-23439141	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189846177	chr19:23439215-23439216	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs78211016	chr19:23439216-23439217	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs548316331	chr19:23439224-23439225	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs117399551	chr19:23439276-23439277	Weak transcription Strong transcription	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23433200-23441400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:23433200-23441400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:23433200-23441400	Weak transcription	Aorta	Aorta
4	chr19:23433200-23441400	Weak transcription	Lung	lung
5	chr19:23433200-23441600	Weak transcription	Fetal Heart	heart
6	chr19:23433200-23441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:23433200-23441800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:23433200-23442000	Weak transcription	Left Ventricle	heart
9	chr19:23433200-23442000	Weak transcription	Spleen	Spleen
10	chr19:23433200-23442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:23433200-23442400	Weak transcription	Esophagus	oesophagus
12	chr19:23433200-23442600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr19:23433200-23455000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:23433200-23456200	Weak transcription	Small Intestine	intestine
15	chr19:23433400-23441400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:23433400-23441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:23433400-23441400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:23433400-23441400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:23433400-23441400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:23433400-23441400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:23433400-23441400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:23433400-23441400	Weak transcription	Colonic Mucosa	Colon
23	chr19:23433400-23441400	Weak transcription	Fetal Muscle Leg	muscle
24	chr19:23433400-23441400	Weak transcription	Placenta	Placenta
25	chr19:23433400-23441400	Weak transcription	Pancreas	Pancrea
26	chr19:23433400-23441400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:23433400-23441600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:23433400-23441600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:23433400-23441600	Weak transcription	Liver	Liver
30	chr19:23433400-23441600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:23433400-23441600	Weak transcription	HSMM	muscle
32	chr19:23433400-23442000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:23433400-23442000	Weak transcription	Gastric	stomach
34	chr19:23433400-23442600	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:23433400-23450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:23433400-23455400	Weak transcription	Stomach Mucosa	stomach
37	chr19:23433400-23455800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:23433400-23456000	Weak transcription	Osteobl	bone
39	chr19:23433600-23440400	Weak transcription	Brain Germinal Matrix	brain
40	chr19:23433600-23441200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:23433600-23441200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:23433600-23441200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:23433600-23441200	Weak transcription	Fetal Brain Female	brain
44	chr19:23433600-23441200	Weak transcription	Thymus	Thymus
45	chr19:23433600-23441400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:23433600-23441400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:23433600-23441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:23433600-23441400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr19:23433600-23441400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:23433600-23441400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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