Variant report

Variant	esv3318105
Chromosome Location	chr19:37460761-37461340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:37461308-37461395	GM10248	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:37461278-37461328	HEEpiC	esophagus:	n/a
2	chr19:37461278-37461328	GM19239	blood:	n/a
3	chr19:37461278-37461328	NHBE	bronchial:	n/a
4	chr19:37461278-37461328	K562	blood:	n/a
5	chr19:37461278-37461328	SAEC	small airway:	n/a
6	chr19:37461278-37461328	Jurkat	blood:	n/a
7	chr19:37461278-37461328	GM12878	blood:	n/a
8	chr19:37461278-37461328	LNCaP	prostate:	n/a
9	chr19:37461278-37461328	Hela-S3	cervix:	n/a
10	chr19:37461278-37461328	HNPCEpiC	eye:	n/a
11	chr19:37461278-37461328	GM06990	blood:	n/a
12	chr19:37461278-37461328	IMR90	lung:	fetal
13	chr19:37461278-37461328	NH-A	brain:	n/a
14	chr19:37461278-37461328	BJ	skin:	n/a
15	chr19:37461278-37461328	HAEpiC	amniotic membrane:	n/a
16	chr19:37461278-37461328	HPAEpiC	pulmonary alveolar:	n/a
17	chr19:37461278-37461328	HMEC	breast:	n/a
18	chr19:37461278-37461328	HCPEpiC	choroid plexus:	n/a
19	chr19:37461278-37461328	AG04449	skin:	fetal
20	chr19:37461278-37461328	NHDF-neo	bronchial:	n/a
21	chr19:37461278-37461328	A549	lung:	n/a
22	chr19:37461278-37461328	PrEC	prostate:	n/a
23	chr19:37461278-37461328	HIPEpiC	eye:	n/a
24	chr19:37461278-37461328	U87	brain:	n/a
25	chr19:37461278-37461328	HL-60	blood:	n/a
26	chr19:37461278-37461328	GM12892	blood:	n/a
27	chr19:37461278-37461328	AoSMC	blood vessel:	n/a
28	chr19:37461278-37461328	HCF	heart:	n/a
29	chr19:37461278-37461328	SK-N-SH	brain:	n/a
30	chr19:37461278-37461328	SK-N-MC	brain:	n/a
31	chr19:37461278-37461328	NT2-D1	testis:	n/a
32	chr19:37461278-37461328	ProgFib	skin:	n/a
33	chr19:37461278-37461328	HepG2	liver:	n/a
34	chr19:37461278-37461328	ECC-1	luminal epithelium:	n/a
35	chr19:37461278-37461328	HRE	kidney:	n/a
36	chr19:37461278-37461328	HCM	heart:	n/a
37	chr19:37461278-37461328	Caco-2	colon:	n/a
38	chr19:37461278-37461328	AG09319	gingival:	n/a
39	chr19:37461278-37461328	CMK	blood:	n/a
40	chr19:37461278-37461328	PFSK-1	brain:	n/a
41	chr19:37461278-37461328	Hepatocyte	liver:	n/a
42	chr19:37461278-37461328	HRCEpiC	kidney:	n/a
43	chr19:37461278-37461328	MCF10A-Er-Src	breast:	n/a
44	chr19:37461278-37461328	HRPEpiC	eye:	n/a
45	chr19:37461278-37461328	T-47D	breast:	n/a
46	chr19:37461278-37461328	MCF-7	breast:	n/a
47	chr19:37461278-37461328	SKMC	muscle:	n/a
48	chr19:37461278-37461328	SK-N-SH_RA	brain:	n/a
49	chr19:37461278-37461328	AG10803	skin:	n/a
50	chr19:37461278-37461328	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ZNF568	TF binding region
ZNF568	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112192353	chr19:37460764-37460765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528379075	chr19:37460908-37460909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184083975	chr19:37460983-37460984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575903929	chr19:37461015-37461016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114989340	chr19:37461125-37461126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73620041	chr19:37461193-37461194	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550694764	chr19:37461233-37461234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371059851	chr19:37461243-37461244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142870882	chr19:37461248-37461249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149949747	chr19:37461253-37461254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149202661	chr19:37461258-37461259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375195424	chr19:37461262-37461263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55774614	chr19:37461267-37461268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11668552	chr19:37461279-37461280	ZNF genes & repeats Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
15	rs55817933	chr19:37461285-37461286	ZNF genes & repeats Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
16	rs567110746	chr19:37461287-37461288	ZNF genes & repeats Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs534267683	chr19:37461309-37461310	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs549598778	chr19:37461310-37461311	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs567888177	chr19:37461316-37461317	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs535530398	chr19:37461340-37461341	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37447800-37463400	Weak transcription	Left Ventricle	heart
2	chr19:37450800-37463200	Weak transcription	Brain Anterior Caudate	brain
3	chr19:37451600-37463400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:37452000-37463200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr19:37455400-37463200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:37455600-37463200	Weak transcription	Brain Substantia Nigra	brain
7	chr19:37455600-37463400	Weak transcription	Placenta	Placenta
8	chr19:37456200-37463200	Weak transcription	Fetal Stomach	stomach
9	chr19:37456400-37463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr19:37456600-37463200	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:37457600-37463200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr19:37457800-37463200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:37457800-37463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:37458000-37463200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:37458000-37463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:37458000-37463600	Weak transcription	Aorta	Aorta
17	chr19:37458000-37463600	Weak transcription	Gastric	stomach
18	chr19:37458000-37463600	Weak transcription	Ovary	ovary
19	chr19:37458000-37463600	Weak transcription	Spleen	Spleen
20	chr19:37458600-37463200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:37458800-37463400	Weak transcription	HSMMtube	muscle
22	chr19:37459000-37463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:37459800-37463400	Weak transcription	Right Ventricle	heart
24	chr19:37460200-37461000	ZNF genes & repeats	Liver	Liver
25	chr19:37460400-37463400	Weak transcription	Fetal Brain Female	brain
26	chr19:37460600-37463400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:37460600-37463400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr19:37460800-37461400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:37460800-37463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:37461000-37463600	Weak transcription	Liver	Liver

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