Variant report

Variant	esv3433765
Chromosome Location	chr19:23542605-23542788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr19:23542591-23543305	HEK293	kidney:	n/a	n/a
2	SETDB1	chr19:23542329-23545474	U2OS	brain:	n/a	n/a
3	ZNF274	chr19:23542410-23545495	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF274	chr19:23542095-23542680	GM08714	blood:	n/a	n/a
5	ZNF274	chr19:23542424-23543049	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZNF91	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368262222	chr19:23542628-23542629	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202182741	chr19:23542632-23542633	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201417331	chr19:23542637-23542638	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372520484	chr19:23542661-23542662	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs369240183	chr19:23542663-23542664	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1821846	chr19:23542683-23542684	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1821845	chr19:23542697-23542698	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531632859	chr19:23542698-23542699	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs369436191	chr19:23542712-23542713	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs375219444	chr19:23542742-23542743	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374974529	chr19:23542743-23542744	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568509929	chr19:23542748-23542749	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs1821844	chr19:23542749-23542750	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201244953	chr19:23542758-23542759	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs187078556	chr19:23542766-23542767	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548092660	chr19:23542768-23542769	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376637810	chr19:23542783-23542784	ZNF genes & repeats Weak transcription	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23506000-23548400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:23512400-23548400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:23513200-23570400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:23524000-23548400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr19:23524200-23548400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:23524200-23548400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:23524400-23552200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:23524400-23570200	ZNF genes & repeats	Liver	Liver
9	chr19:23524600-23546400	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:23524600-23547400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr19:23524600-23547800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr19:23524600-23570000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr19:23526000-23547200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
14	chr19:23526400-23547400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:23529400-23556800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:23536800-23548400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:23537000-23548200	ZNF genes & repeats	Fetal Lung	lung
18	chr19:23538800-23543400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr19:23539400-23544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:23539400-23548200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr19:23540000-23545600	Weak transcription	Aorta	Aorta
22	chr19:23540000-23545600	Weak transcription	Lung	lung
23	chr19:23540000-23546800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:23540000-23549000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:23541200-23546000	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr19:23541200-23548400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr19:23541200-23552400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:23541400-23547400	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr19:23541400-23547800	ZNF genes & repeats	HSMMtube	muscle
30	chr19:23542200-23543200	ZNF genes & repeats	Ovary	ovary
31	chr19:23542200-23548000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr19:23542200-23548400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:23542400-23544800	Weak transcription	Placenta	Placenta
34	chr19:23542600-23547000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
35	chr19:23542600-23547200	ZNF genes & repeats	Brain Hippocampus Middle	brain

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