Variant report

Variant	esv3402015
Chromosome Location	chr19:44841384-44841700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44841442..44843915-chr19:44859282..44861440,2	MCF-7	breast:
2	chr19:44840012..44842382-chr19:44842784..44845287,2	MCF-7	breast:
3	chr19:44841145..44843332-chr19:44846743..44848513,2	K562	blood:
4	chr19:44832482..44835383-chr19:44840174..44844169,3	MCF-7	breast:
5	chr19:44833757..44836676-chr19:44841493..44843748,2	K562	blood:

Variant related genes	Relation type
ENSG00000062370	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190353203	chr19:44841429-44841430	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547759091	chr19:44841453-44841454	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9676262	chr19:44841461-44841462	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62117828	chr19:44841473-44841474	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555803064	chr19:44841477-44841478	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530197699	chr19:44841485-44841486	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550273152	chr19:44841487-44841488	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569090566	chr19:44841489-44841490	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11883373	chr19:44841495-44841496	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62115260	chr19:44841506-44841507	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62115261	chr19:44841508-44841509	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62115262	chr19:44841510-44841511	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201683239	chr19:44841513-44841514	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373782332	chr19:44841515-44841516	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62115263	chr19:44841530-44841531	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375883315	chr19:44841537-44841538	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs62115265	chr19:44841542-44841543	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368134553	chr19:44841549-44841550	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62115266	chr19:44841553-44841554	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185874337	chr19:44841555-44841556	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62115267	chr19:44841556-44841557	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62115268	chr19:44841559-44841560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62115269	chr19:44841565-44841566	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377487589	chr19:44841567-44841568	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28801416	chr19:44841576-44841577	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28435146	chr19:44841578-44841579	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs67711424	chr19:44841660-44841661	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551390309	chr19:44841670-44841671	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44823200-44856200	ZNF genes & repeats	Liver	Liver
2	chr19:44825000-44846600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:44828000-44845000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:44828400-44846400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr19:44828600-44844200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:44828600-44845600	ZNF genes & repeats	Fetal Lung	lung
7	chr19:44828600-44848800	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:44828600-44851000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:44828800-44842600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:44828800-44846200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:44828800-44846400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:44829000-44844000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:44830400-44845000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr19:44830600-44845200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr19:44830800-44845600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:44830800-44850400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:44831600-44841400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr19:44831600-44846600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:44831800-44845000	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr19:44831800-44846400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:44832000-44845600	Weak transcription	Hela-S3	cervix
22	chr19:44832000-44848200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:44837400-44841400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:44837400-44841400	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr19:44837400-44841400	ZNF genes & repeats	Pancreas	Pancrea
26	chr19:44837400-44844800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr19:44837400-44845200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
28	chr19:44837400-44851000	ZNF genes & repeats	Ovary	ovary
29	chr19:44838000-44841600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:44838600-44841400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:44838600-44841400	ZNF genes & repeats	Lung	lung
32	chr19:44839000-44842000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:44839400-44841600	Strong transcription	HUVEC	blood vessel
34	chr19:44839400-44845000	Strong transcription	NH-A	brain
35	chr19:44839400-44845200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:44839400-44845600	Weak transcription	Stomach Mucosa	stomach
37	chr19:44839800-44841400	Strong transcription	Brain Anterior Caudate	brain
38	chr19:44839800-44842400	Strong transcription	Colon Smooth Muscle	Colon
39	chr19:44839800-44846400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:44840000-44841800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr19:44840000-44845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:44840200-44842200	Weak transcription	Thymus	Thymus
43	chr19:44840200-44843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:44840200-44843400	Strong transcription	Fetal Intestine Large	intestine
45	chr19:44840400-44845200	Strong transcription	HSMM	muscle
46	chr19:44840400-44846200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:44840600-44844600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:44840800-44841400	ZNF genes & repeats	Fetal Stomach	stomach
49	chr19:44840800-44841400	Weak transcription	Fetal Thymus	thymus
50	chr19:44840800-44842400	Weak transcription	Rectal Mucosa Donor 31	rectum

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