Variant report

Variant	esv3321680
Chromosome Location	chr19:38239812-38244210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147262583	chr19:38239833-38239834	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570723370	chr19:38239928-38239929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57867853	chr19:38239942-38239943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115021494	chr19:38239948-38239949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568075827	chr19:38239977-38239978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535439533	chr19:38239988-38239989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12974225	chr19:38240098-38240099	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs188324009	chr19:38240106-38240107	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75116694	chr19:38240149-38240150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs184907965	chr19:38240312-38240313	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548163450	chr19:38240321-38240322	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs56075341	chr19:38240386-38240387	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577113838	chr19:38240402-38240403	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375718547	chr19:38240457-38240458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79825853	chr19:38240458-38240459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs574814140	chr19:38240467-38240468	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541458581	chr19:38240499-38240500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188599660	chr19:38240545-38240546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs856295	chr19:38240559-38240560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530484281	chr19:38240577-38240578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569576810	chr19:38240616-38240617	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181168527	chr19:38240655-38240656	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564315412	chr19:38240724-38240725	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs558621811	chr19:38240726-38240727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570397412	chr19:38240781-38240782	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139124058	chr19:38240791-38240792	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142819953	chr19:38240792-38240793	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577265080	chr19:38240816-38240817	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550689634	chr19:38240853-38240854	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537763116	chr19:38240867-38240868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371231545	chr19:38240904-38240905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147404040	chr19:38240971-38240972	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531116478	chr19:38240986-38240987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs856296	chr19:38241015-38241016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs145557813	chr19:38241057-38241058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567005530	chr19:38241124-38241125	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75808014	chr19:38241144-38241145	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143873652	chr19:38241145-38241146	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574776355	chr19:38241158-38241159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35462777	chr19:38241216-38241217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs57676507	chr19:38241224-38241225	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377663852	chr19:38241278-38241279	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567990582	chr19:38241299-38241300	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535308686	chr19:38241301-38241302	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186881297	chr19:38241316-38241317	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191770596	chr19:38241320-38241321	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528197809	chr19:38241323-38241324	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540421413	chr19:38241328-38241329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113040948	chr19:38241367-38241368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561983874	chr19:38241420-38241421	Weak transcription ZNF genes & repeats Strong 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
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38221200-38241800	ZNF genes & repeats	Liver	Liver
2	chr19:38224600-38241600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:38230800-38251400	Weak transcription	Pancreas	Pancrea
4	chr19:38230800-38252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:38230800-38259800	Weak transcription	Fetal Thymus	thymus
6	chr19:38231000-38246600	Weak transcription	Left Ventricle	heart
7	chr19:38231000-38246800	Weak transcription	Brain Germinal Matrix	brain
8	chr19:38231000-38250400	Weak transcription	Brain Substantia Nigra	brain
9	chr19:38231000-38258200	Weak transcription	Brain Anterior Caudate	brain
10	chr19:38231000-38258400	Weak transcription	Fetal Kidney	kidney
11	chr19:38231000-38258800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:38231000-38260400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:38231400-38250600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:38231400-38255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:38231400-38259400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:38231400-38259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:38231800-38245800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:38231800-38253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:38231800-38257600	Weak transcription	HSMM	muscle
20	chr19:38231800-38258200	Weak transcription	HSMMtube	muscle
21	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
22	chr19:38232200-38250600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:38232200-38253000	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:38232400-38242800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:38232400-38243200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:38232400-38252000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:38232400-38253600	Weak transcription	Right Ventricle	heart
28	chr19:38232400-38254000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:38232400-38255600	Weak transcription	Psoas Muscle	Psoas
30	chr19:38232400-38256600	Weak transcription	Dnd41	blood
31	chr19:38235200-38250600	Weak transcription	Gastric	stomach
32	chr19:38235200-38253200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:38235400-38251400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:38235400-38252800	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:38235600-38250800	Weak transcription	Fetal Stomach	stomach
36	chr19:38235600-38251400	Weak transcription	Fetal Muscle Leg	muscle
37	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
38	chr19:38236600-38249000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:38236600-38250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:38236600-38250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:38236800-38243200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:38237000-38241600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:38237000-38260400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:38237200-38240000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr19:38237400-38242800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:38237400-38252600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:38237400-38252800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:38237600-38243200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:38237800-38246800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:38238000-38240400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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