Variant report

Variant	esv3383811
Chromosome Location	chr19:44932554-44933116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44931433..44933674-chr19:44935471..44937509,2	K562	blood:
2	chr19:44927888..44930648-chr19:44931223..44933120,2	MCF-7	breast:
3	chr19:44932216..44933778-chr19:44935937..44937487,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 63 )

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	rs200829422	chr19:44932555-44932556	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181482670	chr19:44932565-44932566	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370784906	chr19:44932605-44932606	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200540195	chr19:44932609-44932610	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185969631	chr19:44932614-44932615	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539501231	chr19:44932634-44932635	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199614801	chr19:44932638-44932639	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371054111	chr19:44932661-44932662	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374635924	chr19:44932664-44932665	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375182987	chr19:44932704-44932705	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554420920	chr19:44932710-44932711	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141069725	chr19:44932726-44932727	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373859995	chr19:44932727-44932728	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367681110	chr19:44932745-44932746	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199929298	chr19:44932747-44932748	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563098651	chr19:44932753-44932754	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369586413	chr19:44932768-44932769	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373898116	chr19:44932777-44932778	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190591050	chr19:44932808-44932809	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs267605538	chr19:44932824-44932825	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377044280	chr19:44932841-44932842	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201333368	chr19:44932844-44932845	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373616418	chr19:44932850-44932851	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539304594	chr19:44932854-44932855	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375732625	chr19:44932857-44932858	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370335801	chr19:44932858-44932859	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374028679	chr19:44932889-44932890	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559912445	chr19:44932895-44932896	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200873280	chr19:44932899-44932900	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368333932	chr19:44932900-44932901	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199841946	chr19:44932901-44932902	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183120208	chr19:44932902-44932903	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372112319	chr19:44932908-44932909	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560495393	chr19:44932910-44932911	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568768446	chr19:44932919-44932920	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202091917	chr19:44932929-44932930	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61747137	chr19:44932968-44932969	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1434579	chr19:44932972-44932973	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
39	rs372853759	chr19:44932973-44932974	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201820265	chr19:44932979-44932980	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189094366	chr19:44933000-44933001	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200585029	chr19:44933003-44933004	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149761804	chr19:44933009-44933010	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199982593	chr19:44933018-44933019	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375987034	chr19:44933025-44933026	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369671044	chr19:44933055-44933056	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199930833	chr19:44933061-44933062	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565565829	chr19:44933063-44933064	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534504578	chr19:44933064-44933065	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369534303	chr19:44933073-44933074	ZNF genes & repeats Strong transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928000-44943600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:44928200-44941000	ZNF genes & repeats	Liver	Liver
3	chr19:44928200-44941000	ZNF genes & repeats	Ovary	ovary
4	chr19:44928200-44943400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44929200-44945400	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:44929400-44941000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:44931800-44932600	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr19:44931800-44934400	ZNF genes & repeats	Fetal Heart	heart
10	chr19:44931800-44940200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:44931800-44941000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr19:44931800-44941600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:44932000-44934600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr19:44932000-44934800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:44932000-44936400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr19:44932000-44936800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
17	chr19:44932000-44938800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:44932000-44939800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr19:44932000-44940000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:44932000-44941000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr19:44932000-44943400	ZNF genes & repeats	Fetal Lung	lung
22	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr19:44932200-44933800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:44932200-44936000	ZNF genes & repeats	Fetal Kidney	kidney
25	chr19:44932200-44936600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:44932200-44936600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr19:44932200-44937400	ZNF genes & repeats	Fetal Brain Male	brain
28	chr19:44932200-44937800	ZNF genes & repeats	HSMMtube	muscle
29	chr19:44932200-44940200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:44932200-44940400	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr19:44932200-44940800	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr19:44932200-44941000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:44932200-44941000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr19:44932200-44941000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:44932200-44941000	ZNF genes & repeats	Left Ventricle	heart
36	chr19:44932200-44943400	ZNF genes & repeats	A549	lung
37	chr19:44932200-44943600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
38	chr19:44932400-44932800	Weak transcription	Brain Angular Gyrus	brain
39	chr19:44932400-44933400	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr19:44932400-44933600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
41	chr19:44932400-44934400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr19:44932400-44934400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:44932400-44934600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:44932400-44934600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
45	chr19:44932400-44934600	ZNF genes & repeats	NH-A	brain
46	chr19:44932400-44936000	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr19:44932400-44936000	ZNF genes & repeats	HSMM	muscle
48	chr19:44932400-44936000	ZNF genes & repeats	NHLF	lung
49	chr19:44932400-44936200	ZNF genes & repeats	NHEK	skin
50	chr19:44932400-44936600	ZNF genes & repeats	Gastric	stomach

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