Variant report

Variant	esv2228870
Chromosome Location	chr19:53616344-53616985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398121086	chr19:53616352-53616353	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547413217	chr19:53616367-53616368	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7252862	chr19:53616373-53616374	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115917685	chr19:53616377-53616378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190303145	chr19:53616378-53616379	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575697430	chr19:53616382-53616383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140761212	chr19:53616399-53616400	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181677273	chr19:53616430-53616431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185881615	chr19:53616471-53616472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369553740	chr19:53616480-53616481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372798206	chr19:53616481-53616482	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376023175	chr19:53616482-53616483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10412771	chr19:53616483-53616484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368988462	chr19:53616485-53616486	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542500723	chr19:53616494-53616495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560584742	chr19:53616513-53616514	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10412971	chr19:53616532-53616533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545851836	chr19:53616563-53616564	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564490829	chr19:53616632-53616633	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369496083	chr19:53616685-53616686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372406669	chr19:53616739-53616740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576724507	chr19:53616749-53616750	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190205071	chr19:53616755-53616756	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182524691	chr19:53616759-53616760	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555355246	chr19:53616775-53616776	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112699495	chr19:53616779-53616780	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11879860	chr19:53616819-53616820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11879862	chr19:53616829-53616830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560244199	chr19:53616876-53616877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529037580	chr19:53616880-53616881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149683157	chr19:53616892-53616893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77281116	chr19:53616940-53616941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs185317602	chr19:53616948-53616949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550945530	chr19:53616964-53616965	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53607400-53630600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:53607600-53620600	Weak transcription	Stomach Mucosa	stomach
3	chr19:53607600-53635000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:53610200-53620600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr19:53610800-53619200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:53611200-53621200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:53612600-53617800	Weak transcription	Fetal Brain Male	brain
8	chr19:53612600-53634200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:53612800-53616400	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr19:53613000-53617800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:53613000-53617800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:53613000-53618600	Weak transcription	Small Intestine	intestine
13	chr19:53613000-53618800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:53613000-53618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:53613000-53620400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:53613000-53620800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:53613000-53629600	Weak transcription	Fetal Heart	heart
18	chr19:53613000-53634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:53613000-53635400	Weak transcription	HSMMtube	muscle
20	chr19:53613200-53617600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:53614000-53618000	Strong transcription	Ovary	ovary
22	chr19:53614400-53619800	Strong transcription	Fetal Stomach	stomach
23	chr19:53614400-53621000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:53614800-53619000	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:53614800-53619200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:53615200-53620200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:53615200-53620200	Strong transcription	Dnd41	blood
28	chr19:53615400-53616400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:53615400-53616400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr19:53615400-53618400	Strong transcription	Gastric	stomach
31	chr19:53615400-53618800	Strong transcription	Pancreas	Pancrea
32	chr19:53615400-53619000	Strong transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:53615400-53619200	Strong transcription	Brain Germinal Matrix	brain
34	chr19:53615400-53619400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:53615400-53619600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:53615400-53619600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:53615400-53619600	Strong transcription	Placenta	Placenta
38	chr19:53615400-53619600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr19:53615400-53619600	Strong transcription	Right Ventricle	heart
40	chr19:53615400-53620000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:53615400-53620000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:53615400-53620000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:53615400-53620000	Strong transcription	Brain Hippocampus Middle	brain
44	chr19:53615400-53620000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr19:53615400-53620000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr19:53615400-53620600	Strong transcription	Fetal Brain Female	brain
47	chr19:53615400-53620600	Strong transcription	Left Ventricle	heart
48	chr19:53615400-53621000	Strong transcription	Fetal Lung	lung
49	chr19:53615400-53621400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:53615600-53619000	Strong transcription	Adipose Nuclei	Adipose

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