Variant report

Variant	esv1959087
Chromosome Location	chr19:51128835-51129274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545905607	chr19:51128835-51128836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373873031	chr19:51128841-51128842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10426057	chr19:51128856-51128857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs543490534	chr19:51128868-51128869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562783355	chr19:51128899-51128900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529970585	chr19:51128931-51128932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548335021	chr19:51129034-51129035	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60401344	chr19:51129043-51129044	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202030881	chr19:51129044-51129045	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7260377	chr19:51129051-51129052	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59948874	chr19:51129052-51129053	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7260383	chr19:51129060-51129061	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138371650	chr19:51129061-51129062	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7260283	chr19:51129064-51129065	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570605777	chr19:51129085-51129086	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537825635	chr19:51129086-51129087	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555914893	chr19:51129089-51129090	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145686572	chr19:51129176-51129177	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368077148	chr19:51129203-51129204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200111183	chr19:51129212-51129213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201091203	chr19:51129218-51129219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375870674	chr19:51129245-51129246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51126400-51137400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr19:51127400-51129400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:51128600-51130200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51128800-51129400	Enhancers	Fetal Muscle Leg	muscle
5	chr19:51129000-51129200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr19:51129200-51129400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:51129200-51129400	Enhancers	Fetal Muscle Trunk	muscle

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