Variant report

Variant	esv2762037
Chromosome Location	chr19:37503899-37510784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8106386	chr19:37503899-37503900	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117594553	chr19:37503922-37503923	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533996245	chr19:37503940-37503941	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77485953	chr19:37503942-37503943	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555041711	chr19:37503973-37503974	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567391739	chr19:37504003-37504004	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576168134	chr19:37504006-37504007	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543519241	chr19:37504014-37504015	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558474963	chr19:37504027-37504028	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79738604	chr19:37504075-37504076	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74499816	chr19:37504102-37504103	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374554777	chr19:37504114-37504115	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553127094	chr19:37504119-37504120	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541674963	chr19:37504120-37504121	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544589393	chr19:37504142-37504143	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556622111	chr19:37504165-37504166	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542099894	chr19:37504167-37504168	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563884300	chr19:37504194-37504195	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147381407	chr19:37504206-37504207	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117396024	chr19:37504240-37504241	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549926949	chr19:37504264-37504265	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542198393	chr19:37504281-37504282	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560732897	chr19:37504298-37504299	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56965972	chr19:37504310-37504311	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547645655	chr19:37504320-37504321	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186317107	chr19:37504333-37504334	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139511320	chr19:37504381-37504382	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527832840	chr19:37504442-37504443	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190826904	chr19:37504448-37504449	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569516672	chr19:37504456-37504457	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537120510	chr19:37504489-37504490	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558641163	chr19:37504558-37504559	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577148317	chr19:37504559-37504560	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376381906	chr19:37504568-37504569	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs826322	chr19:37504596-37504597	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs553621548	chr19:37504626-37504627	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117866688	chr19:37504633-37504634	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182962149	chr19:37504635-37504636	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563845776	chr19:37504642-37504643	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575928678	chr19:37504682-37504683	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543530335	chr19:37504751-37504752	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188036100	chr19:37504771-37504772	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532128142	chr19:37504772-37504773	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191104370	chr19:37504783-37504784	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559307518	chr19:37504819-37504820	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532107668	chr19:37504883-37504884	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529898926	chr19:37504935-37504936	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs826323	chr19:37504953-37504954	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs569477359	chr19:37504957-37504958	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568555448	chr19:37504988-37504989	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37498000-37508400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:37498200-37506800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
3	chr19:37498200-37507800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr19:37498200-37508000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37498400-37505200	ZNF genes & repeats	Lung	lung
6	chr19:37498400-37506600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:37498400-37507800	ZNF genes & repeats	Fetal Stomach	stomach
8	chr19:37498400-37507800	ZNF genes & repeats	Pancreas	Pancrea
9	chr19:37498400-37508000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:37498400-37508400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37498600-37506000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:37498600-37506800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:37498600-37509200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr19:37498800-37507800	ZNF genes & repeats	Spleen	Spleen
15	chr19:37499200-37507800	ZNF genes & repeats	Ovary	ovary
16	chr19:37499200-37508800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:37500600-37506400	Weak transcription	Right Ventricle	heart
18	chr19:37502400-37506000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:37502600-37506400	Weak transcription	Fetal Heart	heart
20	chr19:37502800-37504400	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:37503400-37504400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr19:37503400-37504400	Weak transcription	Left Ventricle	heart
23	chr19:37503600-37504200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:37503800-37508000	ZNF genes & repeats	Fetal Lung	lung
25	chr19:37503800-37508400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr19:37504200-37505800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:37504200-37508200	ZNF genes & repeats	Liver	Liver
28	chr19:37504200-37508200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:37504400-37504800	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr19:37504400-37505800	ZNF genes & repeats	Left Ventricle	heart
31	chr19:37504800-37505800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr19:37505000-37506800	ZNF genes & repeats	Aorta	Aorta
33	chr19:37505600-37506200	Active TSS	Primary T cells from cord blood	blood
34	chr19:37505800-37507000	ZNF genes & repeats	Thymus	Thymus
35	chr19:37506000-37506400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:37506200-37507800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr19:37506400-37507200	ZNF genes & repeats	Fetal Heart	heart
38	chr19:37506400-37507400	Weak transcription	Psoas Muscle	Psoas
39	chr19:37506400-37507600	Strong transcription	Right Ventricle	heart
40	chr19:37506400-37508200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr19:37506600-37508200	ZNF genes & repeats	Left Ventricle	heart
42	chr19:37507000-37507200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr19:37507000-37507600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr19:37507200-37508000	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
45	chr19:37507600-37509000	Weak transcription	Right Ventricle	heart
46	chr19:37507800-37510800	Weak transcription	Ovary	ovary
47	chr19:37507800-37512400	Weak transcription	Pancreas	Pancrea
48	chr19:37508200-37508400	ZNF genes & repeats	Brain Angular Gyrus	brain

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