Variant report

Variant	nsv578797
Chromosome Location	chr19:19838321-19839541
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	chr19:19837998..19841957-chr19:19842344..19844108,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105708	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4281843	chr19:19838321-19838322	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546468731	chr19:19838411-19838412	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566620577	chr19:19838471-19838472	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566962350	chr19:19838521-19838522	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181759335	chr19:19838549-19838550	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186420153	chr19:19838623-19838624	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535926383	chr19:19838694-19838695	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74181154	chr19:19838770-19838771	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80258352	chr19:19838797-19838798	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11881980	chr19:19838839-19838840	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557279047	chr19:19838850-19838851	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538415624	chr19:19838897-19838898	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543443387	chr19:19838926-19838927	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570801309	chr19:19838998-19838999	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540088400	chr19:19839076-19839077	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553297381	chr19:19839081-19839082	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558720633	chr19:19839093-19839094	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189611823	chr19:19839163-19839164	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572250511	chr19:19839190-19839191	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555484134	chr19:19839200-19839201	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200867732	chr19:19839217-19839218	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575337994	chr19:19839279-19839280	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75948136	chr19:19839280-19839281	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180792549	chr19:19839286-19839287	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55954125	chr19:19839302-19839303	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540473593	chr19:19839303-19839304	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574111712	chr19:19839311-19839312	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560110489	chr19:19839319-19839320	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs80069752	chr19:19839325-19839326	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76924310	chr19:19839344-19839345	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56355771	chr19:19839345-19839346	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529070039	chr19:19839365-19839366	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548305543	chr19:19839369-19839370	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543064143	chr19:19839410-19839411	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149687579	chr19:19839412-19839413	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs34761854	chr19:19839439-19839440	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186031597	chr19:19839445-19839446	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19828400-19843200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19831000-19842600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:19831200-19843000	Weak transcription	NH-A	brain
4	chr19:19833200-19840400	Weak transcription	Fetal Kidney	kidney
5	chr19:19833200-19840600	Weak transcription	Fetal Brain Male	brain
6	chr19:19833200-19842600	Weak transcription	HSMM	muscle
7	chr19:19833400-19839800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:19833400-19842400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:19833800-19839400	Weak transcription	Fetal Lung	lung
10	chr19:19833800-19839600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:19835200-19841200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:19836400-19842600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:19836600-19842800	Weak transcription	Osteobl	bone
14	chr19:19836800-19839800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr19:19836800-19841800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:19836800-19842400	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr19:19837000-19839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:19837000-19841800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:19837000-19842400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:19837000-19842600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
21	chr19:19837200-19838400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
22	chr19:19837200-19839800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr19:19837200-19841400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:19837200-19842800	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr19:19837400-19839000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:19837400-19840000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr19:19837400-19840400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:19837400-19841000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr19:19837400-19841200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:19837400-19841400	ZNF genes & repeats	Brain Anterior Caudate	brain
31	chr19:19837400-19842400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr19:19837400-19842800	ZNF genes & repeats	Fetal Brain Female	brain
33	chr19:19837600-19839200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:19837600-19840400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:19837600-19841000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr19:19837600-19841200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:19837600-19841200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr19:19837600-19841400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr19:19837600-19841400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr19:19837600-19841600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr19:19837600-19842200	ZNF genes & repeats	Dnd41	blood
42	chr19:19837600-19842400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:19837600-19842400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:19837600-19842400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr19:19837600-19842600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr19:19837800-19838600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chr19:19837800-19838800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr19:19837800-19840800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr19:19837800-19840800	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr19:19837800-19840800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain

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