Variant report

Variant	nsv578794
Chromosome Location	chr19:19837029-19839079
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: 53 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184466433	chr19:19837040-19837041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144747699	chr19:19837066-19837067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545211501	chr19:19837080-19837081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189733657	chr19:19837097-19837098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535952341	chr19:19837163-19837164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576990472	chr19:19837171-19837172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545918776	chr19:19837173-19837174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559161841	chr19:19837190-19837191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372583207	chr19:19837223-19837224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541454367	chr19:19837271-19837272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561687629	chr19:19837278-19837279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530831689	chr19:19837289-19837290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558539183	chr19:19837336-19837337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550868159	chr19:19837370-19837371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570673883	chr19:19837371-19837372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533144103	chr19:19837462-19837463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552664865	chr19:19837478-19837479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181335852	chr19:19837481-19837482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535058252	chr19:19837484-19837485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554675594	chr19:19837535-19837536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568065537	chr19:19837549-19837550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540215499	chr19:19837562-19837563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180697980	chr19:19837568-19837569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557217857	chr19:19837577-19837578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560520628	chr19:19837599-19837600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546078952	chr19:19837610-19837611	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201363253	chr19:19837615-19837616	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553075639	chr19:19837622-19837623	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148503809	chr19:19837623-19837624	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185123851	chr19:19837833-19837834	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540605237	chr19:19837919-19837920	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7247729	chr19:19837946-19837947	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35212080	chr19:19838025-19838026	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551965211	chr19:19838105-19838106	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189093704	chr19:19838170-19838171	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571805676	chr19:19838180-19838181	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4499350	chr19:19838248-19838249	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551234505	chr19:19838289-19838290	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	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
40	rs546468731	chr19:19838411-19838412	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566620577	chr19:19838471-19838472	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566962350	chr19:19838521-19838522	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181759335	chr19:19838549-19838550	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186420153	chr19:19838623-19838624	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535926383	chr19:19838694-19838695	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74181154	chr19:19838770-19838771	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs80258352	chr19:19838797-19838798	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11881980	chr19:19838839-19838840	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557279047	chr19:19838850-19838851	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538415624	chr19:19838897-19838898	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:111 , 50 per page) page: 1 2 3

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

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