Variant report

Variant	esv3508980
Chromosome Location	chr19:37208161-37252433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:37248355..37251214-chr19:37254727..37257634,2	K562	blood:
2	chr19:37251050..37253056-chr19:37257970..37259681,2	K562	blood:
3	chr19:37237446..37239729-chr19:37240708..37243569,2	K562	blood:
4	chr19:37230647..37232496-chr19:37235313..37237662,2	K562	blood:
5	chr19:37237446..37239729-chr19:37240708..37243569,2	K562	blood:
6	chr19:37200029..37202996-chr19:37208997..37211865,2	K562	blood:
7	chr19:37230647..37232496-chr19:37235313..37237662,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF567-4	chr19:37223112-37223145	ucscGeneNc_uc002ntb_1
2	lnc-ZNF567-4	chr19:37222239-37222365	ucscGeneNc_uc002ntb_1
3	lnc-ZNF567-4	chr19:37220300-37220609	ucscGeneNc_uc002ntb_1
4	lnc-ZNF461-4	chr19:37208461-37208525	l_1676_chr19:37148392-37193298_testes
5	lnc-ZNF567-4	chr19:37208608-37208753	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
ENSG00000189042	chromatin interactions

Extended variants
information (count: 1432 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1432 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532875362	chr19:37208171-37208172	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551104556	chr19:37208263-37208264	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566128907	chr19:37208277-37208278	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527318351	chr19:37208359-37208360	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549245622	chr19:37208371-37208372	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567465011	chr19:37208406-37208407	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538017368	chr19:37208452-37208453	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562730579	chr19:37208540-37208541	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191605165	chr19:37208562-37208563	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117265844	chr19:37208678-37208679	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs368684472	chr19:37208683-37208684	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs182880661	chr19:37208702-37208703	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs572453819	chr19:37208749-37208750	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs542669174	chr19:37208832-37208833	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188793080	chr19:37208878-37208879	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576669730	chr19:37208902-37208903	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528311627	chr19:37208914-37208915	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373852750	chr19:37208915-37208916	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565330894	chr19:37208935-37208936	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532615862	chr19:37208966-37208967	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3108578	chr19:37208998-37208999	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs142695875	chr19:37209021-37209022	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559851415	chr19:37209051-37209052	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13345382	chr19:37209063-37209064	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527767444	chr19:37209085-37209086	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548724254	chr19:37209116-37209117	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552351351	chr19:37209123-37209124	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570948595	chr19:37209124-37209125	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537508514	chr19:37209131-37209132	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377615988	chr19:37209134-37209135	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145936079	chr19:37209197-37209198	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550094992	chr19:37209206-37209207	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190559144	chr19:37209294-37209295	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567548877	chr19:37209357-37209358	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547874824	chr19:37209358-37209359	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556150312	chr19:37209360-37209361	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs67937730	chr19:37209400-37209401	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535793386	chr19:37209410-37209411	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536598640	chr19:37209413-37209414	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554677832	chr19:37209414-37209415	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3108199	chr19:37209417-37209418	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs139835985	chr19:37209535-37209536	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558852129	chr19:37209704-37209705	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370775017	chr19:37209730-37209731	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182775035	chr19:37209750-37209751	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541242172	chr19:37209764-37209765	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559788730	chr19:37209778-37209779	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142228061	chr19:37209848-37209849	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111431939	chr19:37209862-37209863	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs34642314	chr19:37209866-37209867	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	chr19:37194600-37211400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:37194600-37211800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr19:37194600-37212000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:37194600-37213000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:37194600-37214400	ZNF genes & repeats	A549	lung
15	chr19:37194600-37214600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr19:37194600-37214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:37194600-37215000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:37194600-37215200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
22	chr19:37194800-37214600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr19:37196000-37211600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:37196200-37214600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr19:37196400-37212600	ZNF genes & repeats	Fetal Lung	lung
26	chr19:37196400-37214200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:37196400-37214400	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr19:37196600-37214600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:37196800-37211800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
30	chr19:37196800-37214600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:37197000-37211000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:37197000-37211400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:37197000-37212600	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr19:37197000-37215000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:37197200-37212200	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr19:37198600-37211600	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr19:37199000-37211800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr19:37199000-37214400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr19:37199000-37215000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr19:37199400-37211400	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr19:37200000-37211400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:37200000-37211600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr19:37200000-37211800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:37200400-37212000	ZNF genes & repeats	Osteobl	bone
46	chr19:37200400-37214400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:37200600-37211400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
48	chr19:37200600-37214200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:37200600-37214600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:37200600-37214800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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