Variant report

Variant	esv3434717
Chromosome Location	chr19:38326161-38347208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:366)
Chromatin interactive
region (count:2)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:38345815-38345896	NHEK	skin:	n/a	n/a
2	CTCF	chr19:38345740-38345890	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr19:38345700-38345850	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr19:38338100-38338250	HEK293	kidney:	n/a	n/a
5	CTCF	chr19:38345700-38345850	BE2_C	brain:	n/a	n/a
6	CTCF	chr19:38345810-38345879	Lung_OC	lung:	n/a	n/a
7	CTCF	chr19:38345820-38345970	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr19:38345800-38345950	NHEK	skin:	n/a	n/a
9	CTCF	chr19:38345860-38346010	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr19:38344100-38344250	MCF-7	breast:	n/a	n/a
11	CTCF	chr19:38345800-38345950	HRE	kidney:	n/a	n/a
12	E2F6	chr19:38345767-38346290	H1-hESC	embryonic stem cell:	n/a	chr19:38345911-38345920 chr19:38345866-38345876 chr19:38345936-38345950
13	FOXA1	chr19:38328470-38328704	HepG2	liver:	n/a	n/a
14	FOXA2	chr19:38328442-38328779	A549	lung:	n/a	n/a
15	FOXA2	chr19:38328317-38328978	A549	lung:	n/a	n/a
16	MAX	chr19:38345705-38346263	SK-N-SH	brain:	n/a	n/a
17	MAX	chr19:38345719-38346268	SK-N-SH	brain:	n/a	n/a
18	MAX	chr19:38345914-38346145	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr19:38345845-38346249	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr19:38345628-38346199	IMR90	lung:	n/a	n/a
21	MYC	chr19:38345266-38345268	MCF-7	breast:	n/a	n/a
22	MYC	chr19:38345185-38345264	MCF-7	breast:	n/a	chr19:38345185-38345196
23	MYC	chr19:38345243-38345307	K562	blood:	n/a	chr19:38345270-38345279
24	POLR2A	chr19:38328533-38328618	A549	lung:	n/a	n/a
25	POLR2A	chr19:38343653-38343743	ProgFib	skin:	n/a	n/a
26	POLR2A	chr19:38328516-38328635	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:38339368-38339375	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:38345968-38345973	MCF-7	breast:	n/a	n/a
29	POLR2A	chr19:38339382-38339394	MCF-7	breast:	n/a	n/a
30	POLR2A	chr19:38345896-38345900	MCF-7	breast:	n/a	n/a
31	POLR2A	chr19:38339314-38339342	MCF-7	breast:	n/a	n/a
32	RAD21	chr19:38344061-38344261	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr19:38343911-38344218	H1-hESC	embryonic stem cell:	n/a	n/a
34	SPI1	chr19:38337804-38338073	HL-60	blood:	n/a	n/a
35	SPI1	chr19:38337821-38338115	HL-60	blood:	n/a	n/a
36	TAF1	chr19:38328492-38328658	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr19:38328481-38328688	H1-hESC	embryonic stem cell:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38345819-38345869	GM06990	blood:	n/a
2	chr19:38345819-38345869	HCPEpiC	choroid plexus:	n/a
3	chr19:38344455-38344505	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:38344058-38344108	HepG2	liver:	n/a
5	chr19:38345819-38345869	HCM	heart:	n/a
6	chr19:38345819-38345869	SKMC	muscle:	n/a
7	chr19:38346511-38346561	PANC-1	pancreas:	n/a
8	chr19:38346023-38346073	GM12892	blood:	n/a
9	chr19:38346511-38346561	HRCEpiC	kidney:	n/a
10	chr19:38343327-38343377	Jurkat	blood:	n/a
11	chr19:38346023-38346073	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:38345819-38345869	SK-N-SH_RA	brain:	n/a
13	chr19:38343327-38343377	SAEC	small airway:	n/a
14	chr19:38344455-38344505	NH-A	brain:	n/a
15	chr19:38346023-38346073	GM12878	blood:	n/a
16	chr19:38345819-38345869	AG04450	lung:	fetal
17	chr19:38343327-38343377	ProgFib	skin:	n/a
18	chr19:38344058-38344108	CMK	blood:	n/a
19	chr19:38345819-38345869	SK-N-SH	brain:	n/a
20	chr19:38345819-38345869	AG10803	skin:	n/a
21	chr19:38344455-38344505	SK-N-SH_RA	brain:	n/a
22	chr19:38344058-38344108	AoSMC	blood vessel:	n/a
23	chr19:38343327-38343377	HMEC	breast:	n/a
24	chr19:38346023-38346073	SAEC	small airway:	n/a
25	chr19:38343327-38343377	HNPCEpiC	eye:	n/a
26	chr19:38344058-38344108	HIPEpiC	eye:	n/a
27	chr19:38346511-38346561	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:38343327-38343377	HEK293	kidney:	embryo
29	chr19:38344455-38344505	SK-N-SH	brain:	n/a
30	chr19:38346511-38346561	SAEC	small airway:	n/a
31	chr19:38343327-38343377	HCT-116	colon:	n/a
32	chr19:38346023-38346073	HUVEC	blood vessel:	n/a
33	chr19:38346023-38346073	NHBE	bronchial:	n/a
34	chr19:38344455-38344505	HRCEpiC	kidney:	n/a
35	chr19:38346023-38346073	RPTEC	kidney:	n/a
36	chr19:38346511-38346561	PFSK-1	brain:	n/a
37	chr19:38345819-38345869	AoSMC	blood vessel:	n/a
38	chr19:38343327-38343377	NHDF-neo	bronchial:	n/a
39	chr19:38343327-38343377	BJ	skin:	n/a
40	chr19:38344058-38344108	Jurkat	blood:	n/a
41	chr19:38346023-38346073	HEEpiC	esophagus:	n/a
42	chr19:38344058-38344108	MCF-7	breast:	n/a
43	chr19:38344058-38344108	HMEC	breast:	n/a
44	chr19:38346511-38346561	AG04449	skin:	fetal
45	chr19:38346023-38346073	AG04449	skin:	fetal
46	chr19:38343327-38343377	H1-hESC	embryonic stem cell:	embryo
47	chr19:38346511-38346561	SK-N-MC	brain:	n/a
48	chr19:38345819-38345869	LNCaP	prostate:	n/a
49	chr19:38345819-38345869	NHBE	bronchial:	n/a
50	chr19:38346023-38346073	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38322269..38323772-chr19:38341605..38343235,2	K562	blood:
2	chr19:38209488..38211320-chr19:38336530..38338721,2	MCF-7	breast:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF573-1	chr19:38345744-38345836	ENSG00000225868.2
2	lnc-ZNF573-1	chr19:38327533-38327655	ENSG00000225868
3	lnc-ZNF573-1	chr19:38327458-38327655	ENSG00000225868.2
4	lnc-ZNF573-1	chr19:38327533-38327655	ENSG00000225868.2
5	lnc-ZNF573-1	chr19:38344539-38344602	ENSG00000225868
6	lnc-ZNF573-1	chr19:38343642-38343761	ENSG00000225868.2
7	lnc-ZNF573-1	chr19:38343642-38343761	ENSG00000225868.2
8	lnc-ZNF573-1	chr19:38345690-38346073	NONHSAT066176
9	lnc-ZNF573-1	chr19:38327533-38327655	ENSG00000225868.2
10	lnc-ZNF573-1	chr19:38327533-38327655	ENSG00000225868.2
11	lnc-ZNF573-1	chr19:38343642-38343761	ENSG00000225868.2
12	lnc-ZNF573-1	chr19:38345744-38345836	ENSG00000225868
13	lnc-ZNF573-1	chr19:38343930-38344187	ENSG00000225868.2
14	lnc-ZNF573-1	chr19:38344539-38344602	ENSG00000225868.2
15	lnc-ZNF573-1	chr19:38345744-38345836	NR_040015
16	lnc-ZNF573-1	chr19:38327533-38327655	NR_040015
17	lnc-ZNF573-1	chr19:38345744-38345855	ENSG00000225868.2
18	lnc-ZNF573-1	chr19:38344539-38344602	NR_040015
19	lnc-ZNF573-1	chr19:38343930-38344165	ENSG00000225868.2

No data

Variant related genes	Relation type
ENSG00000225868	TF binding region
ENSG00000225868	CpG island
ENSG00000198182	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78299015	chr19:38326164-38326165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185609680	chr19:38326239-38326240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541745992	chr19:38326291-38326292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139765617	chr19:38326347-38326348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76750091	chr19:38326348-38326349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550259663	chr19:38326444-38326445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569154179	chr19:38326454-38326455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112748107	chr19:38326542-38326543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377731314	chr19:38326543-38326544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548673168	chr19:38326557-38326558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145071567	chr19:38326599-38326600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118171622	chr19:38326600-38326601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549940493	chr19:38326622-38326623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571399860	chr19:38326631-38326632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538879241	chr19:38326690-38326691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117802580	chr19:38326754-38326755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112383559	chr19:38326796-38326797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565304944	chr19:38326815-38326816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535869264	chr19:38326853-38326854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537803284	chr19:38326939-38326940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147551946	chr19:38326961-38326962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543198345	chr19:38326974-38326975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188063637	chr19:38326976-38326977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577373034	chr19:38326980-38326981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541708979	chr19:38327002-38327003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34038915	chr19:38327035-38327036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150157948	chr19:38327040-38327041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560109839	chr19:38327119-38327120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530445453	chr19:38327171-38327172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542227636	chr19:38327199-38327200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563572202	chr19:38327224-38327225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531031817	chr19:38327236-38327237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533733075	chr19:38327253-38327254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117140332	chr19:38327261-38327262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571380666	chr19:38327280-38327281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77446932	chr19:38327301-38327302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75356521	chr19:38327323-38327324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146490422	chr19:38327374-38327375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558495282	chr19:38327387-38327388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180925358	chr19:38327389-38327390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546016808	chr19:38327414-38327415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536177167	chr19:38327472-38327473	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs186117553	chr19:38327598-38327599	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs570013521	chr19:38327601-38327602	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs8182498	chr19:38327650-38327651	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs140779770	chr19:38327671-38327672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs8103383	chr19:38327701-38327702	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577339822	chr19:38327714-38327715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs541616492	chr19:38327747-38327748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115411939	chr19:38327752-38327753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	21865298	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38324800-38327400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38327400-38327600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:38327600-38327800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:38336400-38337000	Enhancers	Osteobl	bone
5	chr19:38345200-38345600	Enhancers	Fetal Brain Male	brain
6	chr19:38345200-38347200	ZNF genes & repeats	Esophagus	oesophagus
7	chr19:38345400-38345600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr19:38345400-38345600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr19:38345400-38346200	Active TSS	Fetal Brain Female	brain
10	chr19:38345400-38347200	ZNF genes & repeats	Placenta	Placenta
11	chr19:38345400-38347600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:38345600-38345800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr19:38345600-38345800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:38345600-38345800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr19:38345600-38345800	Active TSS	Brain Hippocampus Middle	brain
16	chr19:38345600-38345800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:38345600-38345800	Flanking Active TSS	Fetal Brain Male	brain
18	chr19:38345600-38345800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr19:38345600-38345800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:38345600-38346000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr19:38345600-38346000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:38345600-38346000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr19:38345600-38346000	Flanking Active TSS	Right Ventricle	heart
27	chr19:38345600-38346200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:38345600-38346200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:38345600-38346200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr19:38345600-38346200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:38345600-38346200	Active TSS	Brain Angular Gyrus	brain
32	chr19:38345600-38346200	Active TSS	Brain Anterior Caudate	brain
33	chr19:38345600-38346200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr19:38345600-38346200	Active TSS	Brain Substantia Nigra	brain
35	chr19:38345600-38346200	Enhancers	Fetal Heart	heart
36	chr19:38345600-38346200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr19:38345600-38346200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr19:38345600-38346400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:38345600-38346400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr19:38345600-38346400	ZNF genes & repeats	Lung	lung
41	chr19:38345600-38346600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:38345600-38346600	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr19:38345600-38347000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr19:38345600-38347000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr19:38345600-38347000	ZNF genes & repeats	Spleen	Spleen
46	chr19:38345600-38347200	ZNF genes & repeats	Pancreas	Pancrea
47	chr19:38345600-38347200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:38345600-38347400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:38345600-38347400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:38345800-38346000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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