Variant report

Variant	esv3438032
Chromosome Location	chr19:37073313-37073557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:
2	chr19:37065150..37067798-chr19:37072514..37074047,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF529-2	chr19:37071155-37073606	NONHSAT066017
2	lnc-ZNF529-2	chr19:37073300-37073606	NONHSAT066018

Variant related genes	Relation type
ENSG00000186020	chromatin interactions
ENSG00000233527	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535550409	chr19:37073326-37073327	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs568930881	chr19:37073329-37073330	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs143727368	chr19:37073333-37073334	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs551371906	chr19:37073339-37073340	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs551615403	chr19:37073345-37073346	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs566946765	chr19:37073346-37073347	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs534173862	chr19:37073394-37073395	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs533952948	chr19:37073480-37073481	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs148031241	chr19:37073502-37073503	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37065600-37081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:37065800-37075200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:37065800-37076600	Weak transcription	Stomach Mucosa	stomach
5	chr19:37065800-37078200	Weak transcription	Right Ventricle	heart
6	chr19:37066000-37081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:37066000-37081200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:37066600-37073400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37066600-37073400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:37066600-37073400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:37066600-37074200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:37066600-37074200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:37066600-37080600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37066800-37074400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:37066800-37081000	Strong transcription	Dnd41	blood
16	chr19:37066800-37091400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:37067000-37073800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:37067000-37076200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:37067000-37076800	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:37067000-37080800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:37067000-37081200	ZNF genes & repeats	Liver	Liver
22	chr19:37067000-37081200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:37067400-37074600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:37067800-37074600	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:37068000-37074000	Strong transcription	Left Ventricle	heart
26	chr19:37068000-37074200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr19:37068000-37074600	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr19:37068000-37074800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:37068000-37074800	Strong transcription	Fetal Lung	lung
30	chr19:37068000-37075200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:37068400-37073400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:37068800-37076000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:37068800-37083000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:37070000-37095400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:37070200-37073400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:37070200-37073600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr19:37070200-37074000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr19:37070200-37074400	Strong transcription	HSMMtube	muscle
39	chr19:37070400-37074400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:37070600-37074400	ZNF genes & repeats	Ovary	ovary
41	chr19:37070600-37078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:37070800-37076000	Weak transcription	Brain Anterior Caudate	brain
43	chr19:37071400-37073400	Strong transcription	Brain Germinal Matrix	brain
44	chr19:37071400-37073600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr19:37071400-37079000	Weak transcription	NH-A	brain
46	chr19:37071800-37073800	Weak transcription	Colonic Mucosa	Colon
47	chr19:37072000-37073800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:37072000-37076000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr19:37072000-37081800	Weak transcription	HUVEC	blood vessel
50	chr19:37072200-37074000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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