Variant report

Variant	esv3322425
Chromosome Location	chr19:37458912-37463110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 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
2	MAFK	chr19:37461495-37461581	HepG2	liver:	n/a	chr19:37461498-37461513
3	POLR2A	chr19:37461366-37461397	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:37461448-37461490	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:37462461-37462598	ProgFib	skin:	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	HRE	kidney:	n/a
2	chr19:37461278-37461328	PrEC	prostate:	n/a
3	chr19:37461278-37461328	HRPEpiC	eye:	n/a
4	chr19:37461278-37461328	AG10803	skin:	n/a
5	chr19:37461278-37461328	HEEpiC	esophagus:	n/a
6	chr19:37461278-37461328	HMEC	breast:	n/a
7	chr19:37461278-37461328	IMR90	lung:	fetal
8	chr19:37461278-37461328	GM06990	blood:	n/a
9	chr19:37461278-37461328	HIPEpiC	eye:	n/a
10	chr19:37461278-37461328	AG04450	lung:	fetal
11	chr19:37461278-37461328	MCF-7	breast:	n/a
12	chr19:37461278-37461328	GM12892	blood:	n/a
13	chr19:37461278-37461328	SAEC	small airway:	n/a
14	chr19:37461278-37461328	Hela-S3	cervix:	n/a
15	chr19:37461278-37461328	Caco-2	colon:	n/a
16	chr19:37461278-37461328	Jurkat	blood:	n/a
17	chr19:37461278-37461328	AG09319	gingival:	n/a
18	chr19:37461278-37461328	AoSMC	blood vessel:	n/a
19	chr19:37461278-37461328	HNPCEpiC	eye:	n/a
20	chr19:37461278-37461328	GM12891	blood:	n/a
21	chr19:37461278-37461328	HAEpiC	amniotic membrane:	n/a
22	chr19:37461278-37461328	A549	lung:	n/a
23	chr19:37461278-37461328	CMK	blood:	n/a
24	chr19:37461278-37461328	HCPEpiC	choroid plexus:	n/a
25	chr19:37461278-37461328	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:37461278-37461328	AG09309	skin:	n/a
27	chr19:37461278-37461328	SK-N-MC	brain:	n/a
28	chr19:37461278-37461328	Hepatocyte	liver:	n/a
29	chr19:37461278-37461328	BE2_C	brain:	n/a
30	chr19:37461278-37461328	T-47D	breast:	n/a
31	chr19:37461278-37461328	MCF10A-Er-Src	breast:	n/a
32	chr19:37461278-37461328	LNCaP	prostate:	n/a
33	chr19:37461278-37461328	K562	blood:	n/a
34	chr19:37461278-37461328	PFSK-1	brain:	n/a
35	chr19:37461278-37461328	NHDF-neo	bronchial:	n/a
36	chr19:37461278-37461328	HRCEpiC	kidney:	n/a
37	chr19:37461278-37461328	ovcar-3	ovarian:	n/a
38	chr19:37461278-37461328	BJ	skin:	n/a
39	chr19:37461278-37461328	GM19239	blood:	n/a
40	chr19:37461278-37461328	U87	brain:	n/a
41	chr19:37461278-37461328	HEK293	kidney:	embryo
42	chr19:37461278-37461328	HCT-116	colon:	n/a
43	chr19:37461278-37461328	NHBE	bronchial:	n/a
44	chr19:37461278-37461328	HepG2	liver:	n/a
45	chr19:37461278-37461328	HL-60	blood:	n/a
46	chr19:37461278-37461328	SKMC	muscle:	n/a
47	chr19:37461278-37461328	HCF	heart:	n/a
48	chr19:37461278-37461328	SK-N-SH	brain:	n/a
49	chr19:37461278-37461328	PANC-1	pancreas:	n/a
50	chr19:37461278-37461328	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF568	TF binding region
ZNF568	CpG island
ENSG00000188283	chromatin interactions
ENSG00000245680	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553090951	chr19:37458940-37458941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370409968	chr19:37458984-37458985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs475026	chr19:37459017-37459018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs535732078	chr19:37459025-37459026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557197577	chr19:37459026-37459027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548077	chr19:37459073-37459074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs201442020	chr19:37459139-37459140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34593144	chr19:37459142-37459143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148417997	chr19:37459143-37459144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34967591	chr19:37459144-37459145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545949629	chr19:37459150-37459151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564741031	chr19:37459184-37459185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564140640	chr19:37459201-37459202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576861121	chr19:37459243-37459244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530074851	chr19:37459266-37459267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559068673	chr19:37459274-37459275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550017	chr19:37459292-37459293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs548227617	chr19:37459295-37459296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563530382	chr19:37459339-37459340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35228707	chr19:37459350-37459351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530837961	chr19:37459378-37459379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59549359	chr19:37459446-37459447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77994408	chr19:37459447-37459448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570675334	chr19:37459460-37459461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534787580	chr19:37459466-37459467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547107209	chr19:37459521-37459522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375398934	chr19:37459541-37459542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147554242	chr19:37459577-37459578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576593351	chr19:37459581-37459582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12978998	chr19:37459593-37459594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62113163	chr19:37459610-37459611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114112709	chr19:37459700-37459701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371583308	chr19:37459708-37459709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556945926	chr19:37459757-37459758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111450122	chr19:37459763-37459764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11407798	chr19:37459774-37459775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180856617	chr19:37459860-37459861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540172782	chr19:37459888-37459889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551416909	chr19:37459904-37459905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12977971	chr19:37459906-37459907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573416269	chr19:37459907-37459908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1643418	chr19:37459951-37459952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs112392962	chr19:37459957-37459958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574585191	chr19:37460005-37460006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374905275	chr19:37460018-37460019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549170250	chr19:37460031-37460032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138166681	chr19:37460045-37460046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149555535	chr19:37460073-37460074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144295281	chr19:37460084-37460085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190173752	chr19:37460100-37460101	Weak transcription	n/a	n/a	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:42 , 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	chr19:37454400-37460200	Weak transcription	Fetal Brain Female	brain
6	chr19:37455400-37463200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:37455600-37463200	Weak transcription	Brain Substantia Nigra	brain
8	chr19:37455600-37463400	Weak transcription	Placenta	Placenta
9	chr19:37456200-37463200	Weak transcription	Fetal Stomach	stomach
10	chr19:37456400-37463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:37456600-37463200	Weak transcription	Fetal Muscle Leg	muscle
12	chr19:37456800-37459000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:37457600-37463200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr19:37457800-37463200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:37457800-37463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr19:37458000-37463200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:37458000-37463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:37458000-37463600	Weak transcription	Aorta	Aorta
19	chr19:37458000-37463600	Weak transcription	Gastric	stomach
20	chr19:37458000-37463600	Weak transcription	Ovary	ovary
21	chr19:37458000-37463600	Weak transcription	Spleen	Spleen
22	chr19:37458200-37460600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:37458600-37459000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
24	chr19:37458600-37463200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:37458800-37463400	Weak transcription	HSMMtube	muscle
26	chr19:37459000-37463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:37459800-37463400	Weak transcription	Right Ventricle	heart
28	chr19:37460200-37460400	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:37460200-37460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:37460200-37461000	ZNF genes & repeats	Liver	Liver
31	chr19:37460400-37460600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:37460400-37463400	Weak transcription	Fetal Brain Female	brain
33	chr19:37460600-37463400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr19:37460600-37463400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:37460800-37461400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:37460800-37463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:37461000-37463600	Weak transcription	Liver	Liver
38	chr19:37461400-37463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:37461400-37463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:37463000-37463200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:37463000-37463200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:37463000-37463200	Enhancers	Dnd41	blood

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