Variant report

Variant	nsv578790
Chromosome Location	chr19:19833347-19839439
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: 163 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs373490383	chr19:19833351-19833352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs386807555	chr19:19833355-19833356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529798434	chr19:19833376-19833377	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192152420	chr19:19833389-19833390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569323899	chr19:19833439-19833440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557727400	chr19:19833442-19833443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs8113100	chr19:19833517-19833518	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558451960	chr19:19833521-19833522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565959772	chr19:19833565-19833566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534555284	chr19:19833595-19833596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181955462	chr19:19833619-19833620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369888652	chr19:19833683-19833684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574518991	chr19:19833802-19833803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543159286	chr19:19833821-19833822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371838867	chr19:19833923-19833924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141295988	chr19:19834093-19834094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533862025	chr19:19834094-19834095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553555682	chr19:19834132-19834133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576537652	chr19:19834139-19834140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145256009	chr19:19834181-19834182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61375856	chr19:19834222-19834223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572709038	chr19:19834282-19834283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144922049	chr19:19834327-19834328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539774000	chr19:19834352-19834353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113280453	chr19:19834424-19834425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575927194	chr19:19834499-19834500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561551056	chr19:19834501-19834502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530196386	chr19:19834525-19834526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549497452	chr19:19834579-19834580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545013856	chr19:19834586-19834587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564485785	chr19:19834587-19834588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533752060	chr19:19834591-19834592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563022719	chr19:19834635-19834636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532025265	chr19:19834791-19834792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149061031	chr19:19834816-19834817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185133295	chr19:19834884-19834885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189846183	chr19:19834885-19834886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150060150	chr19:19835028-19835029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79550632	chr19:19835052-19835053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556391278	chr19:19835065-19835066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182464861	chr19:19835103-19835104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188190459	chr19:19835119-19835120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576604294	chr19:19835274-19835275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140250809	chr19:19835337-19835338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs558916727	chr19:19835402-19835403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572319914	chr19:19835437-19835438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112093830	chr19:19835564-19835565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541724730	chr19:19835587-19835588	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376428294	chr19:19835614-19835615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561405294	chr19:19835640-19835641	Weak transcription ZNF genes & repeats	n/a	n/a	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19818400-19833800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:19828400-19843200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:19828600-19838200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:19829800-19837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:19831000-19837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:19831000-19842600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:19831200-19843000	Weak transcription	NH-A	brain
8	chr19:19832000-19833400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:19832600-19833400	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr19:19832600-19833800	ZNF genes & repeats	Fetal Lung	lung
11	chr19:19832600-19835000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:19833000-19833400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
13	chr19:19833200-19837200	Weak transcription	Ovary	ovary
14	chr19:19833200-19837600	Weak transcription	Dnd41	blood
15	chr19:19833200-19840400	Weak transcription	Fetal Kidney	kidney
16	chr19:19833200-19840600	Weak transcription	Fetal Brain Male	brain
17	chr19:19833200-19842600	Weak transcription	HSMM	muscle
18	chr19:19833400-19839800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:19833400-19842400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:19833600-19837600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:19833800-19839400	Weak transcription	Fetal Lung	lung
22	chr19:19833800-19839600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:19835200-19841200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:19835400-19837200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:19835400-19837600	Weak transcription	Primary T cells from cord blood	blood
26	chr19:19835400-19837600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:19836400-19838200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:19836400-19842600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:19836600-19837000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:19836600-19842800	Weak transcription	Osteobl	bone
31	chr19:19836800-19839800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:19836800-19841800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:19836800-19842400	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr19:19837000-19837400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:19837000-19839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:19837000-19841800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:19837000-19842400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:19837000-19842600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr19:19837200-19838000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:19837200-19838200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:19837200-19838200	ZNF genes & repeats	Ovary	ovary
42	chr19:19837200-19838400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
43	chr19:19837200-19839800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr19:19837200-19841400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr19:19837200-19842800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr19:19837400-19838200	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:19837400-19839000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:19837400-19840000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr19:19837400-19840400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr19:19837400-19841000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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