Variant report

Variant	esv2044965
Chromosome Location	chr19:37219336-37219927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532379303	chr19:37219344-37219345	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376669239	chr19:37219366-37219367	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547538490	chr19:37219405-37219406	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115910891	chr19:37219451-37219452	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529386429	chr19:37219468-37219469	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7256786	chr19:37219548-37219549	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs7252957	chr19:37219553-37219554	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs8107399	chr19:37219568-37219569	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7252973	chr19:37219581-37219582	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs10415240	chr19:37219596-37219597	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7253099	chr19:37219609-37219610	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7253560	chr19:37219624-37219625	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199595593	chr19:37219777-37219778	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11667746	chr19:37219780-37219781	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11668534	chr19:37219805-37219806	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34814877	chr19:37219808-37219809	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201587281	chr19:37219820-37219821	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11668535	chr19:37219833-37219834	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199741120	chr19:37219848-37219849	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111623927	chr19:37219855-37219856	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55636310	chr19:37219861-37219862	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4507019	chr19:37219864-37219865	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs112298624	chr19:37219884-37219885	ZNF genes & repeats Weak transcription Strong 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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37219400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:37194400-37221400	ZNF genes & repeats	Dnd41	blood
4	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:37194600-37220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr19:37194600-37227000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
8	chr19:37197000-37226400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:37216200-37220800	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr19:37216200-37221000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:37216200-37222000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:37216200-37226600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
13	chr19:37216200-37228600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:37216400-37219400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:37216400-37221000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:37216400-37221400	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr19:37216600-37219400	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr19:37216600-37219600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr19:37216800-37225200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:37216800-37232400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:37217000-37219400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr19:37217000-37219400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:37217000-37220800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:37217000-37220800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:37217200-37219400	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr19:37217200-37220800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:37217200-37221400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr19:37217200-37221400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr19:37217200-37221400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:37217200-37229000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:37217400-37219400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr19:37217400-37223800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr19:37217600-37219400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:37217600-37220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:37217800-37219400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:37217800-37220200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:37217800-37220400	Weak transcription	HSMM	muscle
38	chr19:37218000-37220800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:37218000-37221000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr19:37218000-37221400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr19:37218200-37220800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:37218200-37221200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:37218400-37219400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:37218400-37219600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr19:37218400-37219600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:37218400-37220200	Weak transcription	Fetal Kidney	kidney
47	chr19:37218600-37219400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr19:37218600-37219400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:37218600-37219400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr19:37218600-37219400	ZNF genes & repeats	A549	lung

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