Variant report

Variant	nsv911649
Chromosome Location	chr19:37203249-37257192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:37210371-37211193	A549	lung:	n/a	n/a
2	BACH1	chr19:37238791-37239110	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr19:37238603-37239027	K562	blood:	n/a	n/a
4	CBX3	chr19:37211337-37211554	K562	blood:	n/a	n/a
5	CBX3	chr19:37211288-37211548	K562	blood:	n/a	n/a
6	CBX3	chr19:37210750-37211065	K562	blood:	n/a	n/a
7	CBX3	chr19:37239413-37239991	K562	blood:	n/a	n/a
8	CBX3	chr19:37210449-37211001	K562	blood:	n/a	n/a
9	CBX3	chr19:37239296-37239745	K562	blood:	n/a	n/a
10	CBX3	chr19:37238627-37239052	K562	blood:	n/a	n/a
11	CBX3	chr19:37240410-37240790	K562	blood:	n/a	n/a
12	CEBPB	chr19:37208454-37208621	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:37248123-37248343	K562	blood:	n/a	chr19:37248209-37248220
14	CEBPB	chr19:37248066-37248361	HepG2	liver:	n/a	chr19:37248209-37248220
15	CEBPB	chr19:37248043-37248352	IMR90	lung:	n/a	chr19:37248209-37248220
16	CEBPB	chr19:37248051-37248310	A549	lung:	n/a	chr19:37248209-37248220
17	CEBPB	chr19:37206828-37206847	A549	lung:	n/a	chr19:37206830-37206843
18	CHD1	chr19:37240087-37240119	GM12878	blood:	n/a	n/a
19	CHD2	chr19:37211146-37211269	K562	blood:	n/a	n/a
20	CHD2	chr19:37238783-37238910	K562	blood:	n/a	n/a
21	CTCF	chr19:37227180-37227330	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr19:37236691-37236732	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr19:37231765-37231839	Fibrobl	skin:	n/a	n/a
24	CTCF	chr19:37231731-37231807	GM13977	blood:	n/a	n/a
25	CTCF	chr19:37213276-37213341	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr19:37221583-37221659	GM10248	blood:	n/a	n/a
27	CTCF	chr19:37227145-37227216	K562	blood:	n/a	n/a
28	CTCF	chr19:37227200-37227350	HEK293	kidney:	n/a	n/a
29	CTCF	chr19:37242493-37242578	GM20000	blood:	n/a	n/a
30	CTCF	chr19:37234640-37234790	GM12875	blood:	n/a	n/a
31	CTCF	chr19:37227112-37227215	LNCaP	prostate:	n/a	n/a
32	CTCF	chr19:37219280-37219430	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr19:37244397-37244437	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:37227080-37227230	WERI-Rb-1	eye:	n/a	n/a
35	E2F6	chr19:37244331-37244468	K562	blood:	n/a	n/a
36	ESR1	chr19:37236728-37237020	ECC-1	luminal epithelium:	n/a	chr19:37236888-37236903 chr19:37236905-37236920
37	ESR1	chr19:37236779-37237083	ECC-1	luminal epithelium:	n/a	chr19:37236888-37236903 chr19:37236905-37236920
38	ETS1	chr19:37210500-37210740	K562	blood:	n/a	n/a
39	ETS1	chr19:37210347-37211522	A549	lung:	n/a	n/a
40	ETS1	chr19:37210355-37210886	K562	blood:	n/a	n/a
41	FAM48A	chr19:37212344-37212544	GM12878	blood:	n/a	n/a
42	GATA2	chr19:37227052-37227356	K562	blood:	n/a	n/a
43	GATA2	chr19:37210468-37210832	HUVEC	blood vessel:	n/a	n/a
44	GATA2	chr19:37210519-37210864	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr19:37240744-37241787	A549	lung:	n/a	n/a
46	GATA3	chr19:37210365-37211484	A549	lung:	n/a	n/a
47	GATA3	chr19:37209896-37211827	A549	lung:	n/a	n/a
48	GATA3	chr19:37227191-37227451	T-47D	breast:	n/a	n/a
49	GTF2F1	chr19:37238723-37239003	H1-hESC	embryonic stem cell:	n/a	n/a
50	GTF2F1	chr19:37239379-37240074	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37248355..37251214-chr19:37254727..37257634,2	K562	blood:
2	chr19:37253172..37254822-chr19:37261292..37262895,2	K562	blood:
3	chr19:37230647..37232496-chr19:37235313..37237662,2	K562	blood:
4	chr19:37251050..37253056-chr19:37257970..37259681,2	K562	blood:
5	chr19:37237446..37239729-chr19:37240708..37243569,2	K562	blood:
6	chr19:37201484..37203219-chr19:37205310..37207219,2	K562	blood:
7	chr19:37248355..37251214-chr19:37254727..37257634,2	K562	blood:
8	chr19:37200029..37202996-chr19:37208997..37211865,2	K562	blood:
9	chr19:37230647..37232496-chr19:37235313..37237662,2	K562	blood:
10	chr19:37237446..37239729-chr19:37240708..37243569,2	K562	blood:
11	chr19:37255401..37258823-chr19:37260501..37263315,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF461-4	chr19:37208461-37208525	l_1676_chr19:37148392-37193298_testes
2	lnc-ZNF567-4	chr19:37208608-37208753	ucscGeneNc_uc002ntb_1
3	lnc-ZNF567-4	chr19:37223112-37223145	ucscGeneNc_uc002ntb_1
4	lnc-ZNF567-4	chr19:37220300-37220609	ucscGeneNc_uc002ntb_1
5	lnc-ZNF567-4	chr19:37222239-37222365	ucscGeneNc_uc002ntb_1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF567	hsa-miR-30b-5p	chr19:37211699-37211720
2	ZNF567	hsa-miR-130b-3p	chr19:37211905-37211925

Variant related genes	Relation type
ZNF567	TF binding region
ENSG00000189042	chromatin interactions

Extended variants
information (count: 1722 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1722 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1830031	chr19:37203249-37203250	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574524057	chr19:37203284-37203285	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200660033	chr19:37203288-37203289	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377581229	chr19:37203294-37203295	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541754461	chr19:37203329-37203330	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369804793	chr19:37203404-37203405	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574654401	chr19:37203420-37203421	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373208449	chr19:37203431-37203432	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377303812	chr19:37203440-37203441	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563634910	chr19:37203450-37203451	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187586129	chr19:37203506-37203507	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546001985	chr19:37203573-37203574	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564196016	chr19:37203605-37203606	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528574457	chr19:37203616-37203617	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191355435	chr19:37203657-37203658	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148030250	chr19:37203660-37203661	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139032961	chr19:37203744-37203745	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201366354	chr19:37203752-37203753	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370610579	chr19:37203765-37203766	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529280113	chr19:37203770-37203771	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370774306	chr19:37203877-37203878	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78479754	chr19:37203998-37203999	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569547653	chr19:37204027-37204028	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560603977	chr19:37204047-37204048	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375532881	chr19:37204063-37204064	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561036911	chr19:37204124-37204125	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187224111	chr19:37204128-37204129	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558331943	chr19:37204132-37204133	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570520296	chr19:37204186-37204187	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572105258	chr19:37204193-37204194	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534697863	chr19:37204214-37204215	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553150693	chr19:37204305-37204306	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143973325	chr19:37204312-37204313	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546202466	chr19:37204331-37204332	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74604339	chr19:37204353-37204354	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77092060	chr19:37204354-37204355	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556947771	chr19:37204360-37204361	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397698219	chr19:37204365-37204366	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528184624	chr19:37204391-37204392	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529683327	chr19:37204428-37204429	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145947375	chr19:37204453-37204454	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575498853	chr19:37204454-37204455	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545640978	chr19:37204499-37204500	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559456108	chr19:37204500-37204501	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563932161	chr19:37204540-37204541	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528318455	chr19:37204583-37204584	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183460285	chr19:37204595-37204596	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189874230	chr19:37204600-37204601	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546567592	chr19:37204607-37204608	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529234577	chr19:37204608-37204609	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37211600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
3	chr19:37194400-37213400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr19:37194400-37214400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:37194400-37214600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:37194400-37215600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
9	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37194600-37204400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:37194600-37211400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:37194600-37211800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr19:37194600-37212000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:37194600-37213000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
15	chr19:37194600-37214400	ZNF genes & repeats	A549	lung
16	chr19:37194600-37214600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:37194600-37214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:37194600-37215000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:37194600-37215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
23	chr19:37194800-37214600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr19:37196000-37211600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:37196200-37214600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:37196400-37212600	ZNF genes & repeats	Fetal Lung	lung
27	chr19:37196400-37214200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:37196400-37214400	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr19:37196600-37214600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:37196800-37208000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:37196800-37211800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:37196800-37214600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:37197000-37206200	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr19:37197000-37206800	ZNF genes & repeats	Ovary	ovary
35	chr19:37197000-37211000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:37197000-37211400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:37197000-37212600	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr19:37197000-37215000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:37197200-37212200	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr19:37198600-37211600	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr19:37198800-37204000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr19:37198800-37205200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:37199000-37211800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr19:37199000-37214400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr19:37199000-37215000	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr19:37199400-37206000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr19:37199400-37211400	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr19:37199600-37204400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr19:37199600-37205800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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