Variant report

Variant	nsv138492
Chromosome Location	chr19:37465747-37466600
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	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245680	chromatin interactions
ENSG00000188283	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368217326	chr19:37465747-37465748	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1644648	chr19:37465760-37465761	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs563452290	chr19:37465765-37465766	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181283293	chr19:37465785-37465786	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552093356	chr19:37465789-37465790	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1644649	chr19:37465798-37465799	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs528604374	chr19:37465811-37465812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546586447	chr19:37465814-37465815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1667336	chr19:37465949-37465950	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs1644650	chr19:37465972-37465973	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs141768452	chr19:37465982-37465983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557603271	chr19:37466024-37466025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201005950	chr19:37466038-37466039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369131570	chr19:37466055-37466056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71266561	chr19:37466057-37466058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4006399	chr19:37466058-37466059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377461306	chr19:37466062-37466063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7259605	chr19:37466079-37466080	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs548611816	chr19:37466103-37466104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558108139	chr19:37466121-37466122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577007328	chr19:37466153-37466154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7256001	chr19:37466166-37466167	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs552987322	chr19:37466175-37466176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528016326	chr19:37466188-37466189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113490776	chr19:37466207-37466208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35624635	chr19:37466226-37466227	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541870663	chr19:37466237-37466238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4806387	chr19:37466239-37466240	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs376165354	chr19:37466295-37466296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371081613	chr19:37466328-37466329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545971447	chr19:37466338-37466339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564173624	chr19:37466349-37466350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571061543	chr19:37466381-37466382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528544442	chr19:37466444-37466445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546725442	chr19:37466445-37466446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190395612	chr19:37466490-37466491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202140000	chr19:37466538-37466539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529203586	chr19:37466543-37466544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550707800	chr19:37466554-37466555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569523383	chr19:37466575-37466576	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37464800-37468600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr19:37464800-37468600	Weak transcription	Aorta	Aorta
3	chr19:37464800-37469200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:37464800-37470400	Weak transcription	HSMM	muscle
5	chr19:37464800-37470600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:37464800-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:37464800-37482000	Weak transcription	HSMMtube	muscle
8	chr19:37465000-37465800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:37465000-37465800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:37465000-37466800	Weak transcription	Fetal Intestine Large	intestine
11	chr19:37465000-37467000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:37465000-37468400	Weak transcription	Primary T cells from cord blood	blood
13	chr19:37465000-37468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:37465000-37468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:37465000-37468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:37465000-37468600	Weak transcription	Fetal Intestine Small	intestine
17	chr19:37465000-37468600	Weak transcription	Ovary	ovary
18	chr19:37465000-37468800	Weak transcription	Gastric	stomach
19	chr19:37465000-37468800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:37465000-37469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:37465000-37469200	Weak transcription	Primary B cells from cord blood	blood
22	chr19:37465000-37469200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:37465000-37469200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:37465000-37469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:37465000-37470200	Weak transcription	Psoas Muscle	Psoas
26	chr19:37465000-37470200	Weak transcription	Osteobl	bone
27	chr19:37465000-37471600	Weak transcription	Brain Substantia Nigra	brain
28	chr19:37465000-37471600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:37465000-37471600	Weak transcription	Thymus	Thymus
30	chr19:37465000-37473600	Weak transcription	Small Intestine	intestine
31	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
32	chr19:37465200-37467000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr19:37465200-37467000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:37465200-37467000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:37465200-37468400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:37465200-37468400	Weak transcription	Liver	Liver
37	chr19:37465200-37468400	Weak transcription	Lung	lung
38	chr19:37465200-37468600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:37465200-37468600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:37465200-37468600	Weak transcription	Brain Hippocampus Middle	brain
41	chr19:37465200-37468600	Weak transcription	Esophagus	oesophagus
42	chr19:37465200-37468600	Weak transcription	Left Ventricle	heart
43	chr19:37465200-37468600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:37465200-37468600	Weak transcription	NHDF-Ad	bronchial
45	chr19:37465200-37468800	Weak transcription	Adipose Nuclei	Adipose
46	chr19:37465200-37468800	Weak transcription	Pancreas	Pancrea
47	chr19:37465200-37469200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:37465200-37470200	Weak transcription	Brain Anterior Caudate	brain
49	chr19:37465200-37470800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr19:37465200-37471200	Weak transcription	Colon Smooth Muscle	Colon

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