Variant report

Variant	nsv960850
Chromosome Location	chr19:44495440-44496048
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	chr19:44488273..44490047-chr19:44492744..44495947,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204920	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565371586	chr19:44495444-44495445	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574902540	chr19:44495448-44495449	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368209863	chr19:44495474-44495475	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544066572	chr19:44495513-44495514	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563951907	chr19:44495528-44495529	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149158210	chr19:44495529-44495530	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs436739	chr19:44495553-44495554	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185244768	chr19:44495591-44495592	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs419839	chr19:44495598-44495599	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548363292	chr19:44495614-44495615	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143299003	chr19:44495640-44495641	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373681318	chr19:44495663-44495664	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190341150	chr19:44495677-44495678	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371520555	chr19:44495718-44495719	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561559442	chr19:44495733-44495734	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148334511	chr19:44495762-44495763	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141510834	chr19:44495784-44495785	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146607153	chr19:44495804-44495805	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200563285	chr19:44495834-44495835	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115284605	chr19:44495835-44495836	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529108936	chr19:44495884-44495885	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565513318	chr19:44495920-44495921	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181873041	chr19:44495959-44495960	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs199685306	chr19:44495973-44495974	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370294146	chr19:44495983-44495984	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539008394	chr19:44495993-44495994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574505884	chr19:44496001-44496002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141365563	chr19:44496003-44496004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544029930	chr19:44496004-44496005	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554622644	chr19:44496011-44496012	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs373022098	chr19:44496022-44496023	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557632058	chr19:44496025-44496026	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44496000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44489200-44496000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:44489200-44496000	Weak transcription	Small Intestine	intestine
4	chr19:44489200-44496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:44489200-44500400	Weak transcription	HUVEC	blood vessel
6	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
8	chr19:44489400-44495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:44489400-44496600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:44489600-44495600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:44489600-44496000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:44489600-44496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:44489600-44506200	Weak transcription	HepG2	liver
14	chr19:44491000-44500200	Strong transcription	Fetal Lung	lung
15	chr19:44491000-44501600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
18	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:44491600-44500000	Strong transcription	Primary T cells from cord blood	blood
20	chr19:44491600-44501800	Strong transcription	Brain Hippocampus Middle	brain
21	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:44492000-44502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:44492200-44499600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr19:44492200-44500200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr19:44492200-44500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:44492200-44501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44492400-44497400	Strong transcription	Rectal Smooth Muscle	rectum
28	chr19:44492400-44499200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr19:44492400-44501000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:44492400-44501400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:44492400-44501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:44492400-44501800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr19:44492400-44501800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr19:44492400-44502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
36	chr19:44492400-44502200	Strong transcription	HSMM	muscle
37	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:44492600-44496000	Strong transcription	Adipose Nuclei	Adipose
41	chr19:44492600-44496000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr19:44492600-44496200	Strong transcription	Psoas Muscle	Psoas
43	chr19:44492600-44496400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:44492600-44496800	Strong transcription	Brain Germinal Matrix	brain
45	chr19:44492600-44497400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:44492600-44498600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:44492600-44499600	Strong transcription	Left Ventricle	heart
48	chr19:44492600-44500200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:44492600-44500200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr19:44492600-44500200	Strong transcription	Fetal Muscle Leg	muscle

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