Variant report

Variant	esv3391789
Chromosome Location	chr19:23590668-23590942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:23590437-23591084	IMR90	lung:	n/a	n/a
2	CEBPB	chr19:23590358-23590849	MCF-7	breast:	n/a	n/a
3	CEBPB	chr19:23590403-23591203	HepG2	liver:	n/a	n/a
4	CEBPB	chr19:23590509-23591131	A549	lung:	n/a	n/a
5	CEBPB	chr19:23590897-23591117	K562	blood:	n/a	n/a
6	CEBPB	chr19:23590450-23591152	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:23590429-23591016	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:23590795-23590812	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF91-1	chr19:23590700-23590893	ENSG00000269416.1
2	lnc-ZNF91-1	chr19:23590700-23590900	NONHSAT063908
3	lnc-ZNF91-1	chr19:23590700-23590900	ENSG00000246181

No data

Variant related genes	Relation type
ENSG00000269416	TF binding region
GTF2IRD2	miRNA target sites

Extended variants
information (count: 14 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528071084	chr19:23590688-23590689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs546716915	chr19:23590716-23590717	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564815201	chr19:23590734-23590735	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34928934	chr19:23590747-23590748	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533872251	chr19:23590782-23590783	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546386692	chr19:23590791-23590792	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs532597953	chr19:23590800-23590801	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs144210645	chr19:23590804-23590805	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs369391393	chr19:23590805-23590806	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs569077567	chr19:23590864-23590865	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs530334920	chr19:23590876-23590877	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs373648048	chr19:23590886-23590887	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs548549780	chr19:23590918-23590919	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs564661772	chr19:23590938-23590939	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23578200-23598000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:23578400-23592200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:23578400-23597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:23578600-23597800	Weak transcription	Fetal Stomach	stomach
5	chr19:23581600-23591000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:23581600-23591200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:23581600-23591200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:23581800-23591000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:23582000-23594000	Enhancers	Fetal Intestine Large	intestine
10	chr19:23582200-23590800	Enhancers	Fetal Intestine Small	intestine
11	chr19:23582200-23591000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr19:23582600-23597600	Weak transcription	Fetal Brain Female	brain
13	chr19:23583800-23597600	Weak transcription	Fetal Lung	lung
14	chr19:23584400-23591800	Weak transcription	Small Intestine	intestine
15	chr19:23585400-23597400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:23585600-23597600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:23585800-23597800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:23586800-23597800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:23587000-23592400	Weak transcription	Colonic Mucosa	Colon
20	chr19:23587000-23598000	Weak transcription	Pancreas	Pancrea
21	chr19:23587200-23593000	Weak transcription	Stomach Mucosa	stomach
22	chr19:23587600-23598200	Weak transcription	Right Atrium	heart
23	chr19:23587800-23597600	Weak transcription	Brain Germinal Matrix	brain
24	chr19:23588000-23592400	Weak transcription	HepG2	liver
25	chr19:23588200-23597600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:23589200-23591200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr19:23589600-23591200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:23589800-23597400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:23590000-23591200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr19:23590000-23596800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:23590200-23591200	Enhancers	Placenta	Placenta
32	chr19:23590200-23597400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:23590600-23590800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr19:23590600-23591000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:23590600-23591000	Genic enhancers	Duodenum Mucosa	Duodenum
36	chr19:23590600-23591000	Genic enhancers	Rectal Mucosa Donor 31	rectum
37	chr19:23590600-23591200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:23590600-23591200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:23590800-23591200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr19:23590800-23591800	Weak transcription	Fetal Intestine Small	intestine

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