Variant report

Variant	esv1004962
Chromosome Location	chr19:51441724-51444654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181740794	chr19:51441729-51441730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10408594	chr19:51441744-51441745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541968899	chr19:51441758-51441759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11084040	chr19:51441759-51441760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186348482	chr19:51441761-51441762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540513518	chr19:51441775-51441776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10408037	chr19:51441783-51441784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532338524	chr19:51441784-51441785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550839559	chr19:51441791-51441792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8104441	chr19:51441807-51441808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532361608	chr19:51441810-51441811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554857381	chr19:51441816-51441817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529752394	chr19:51441826-51441827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116833527	chr19:51441867-51441868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73932685	chr19:51441915-51441916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191258507	chr19:51441934-51441935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200076433	chr19:51441981-51441982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398121068	chr19:51441991-51441992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377575884	chr19:51441992-51441993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372305412	chr19:51442010-51442011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142746120	chr19:51442011-51442012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536653669	chr19:51442035-51442036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538154369	chr19:51442047-51442048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371193894	chr19:51442070-51442071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6509508	chr19:51442108-51442109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568576797	chr19:51442133-51442134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535919192	chr19:51442180-51442181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138995622	chr19:51442183-51442184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572391865	chr19:51442230-51442231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113446089	chr19:51442292-51442293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144112940	chr19:51442293-51442294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368370584	chr19:51442343-51442344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577161448	chr19:51442350-51442351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77522061	chr19:51442397-51442398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534586223	chr19:51442398-51442399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568687660	chr19:51442461-51442462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182174524	chr19:51442477-51442478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541886552	chr19:51442506-51442507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35658784	chr19:51442525-51442526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148685704	chr19:51442534-51442535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs268915	chr19:51442541-51442542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553163654	chr19:51442542-51442543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527280493	chr19:51442544-51442545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375270662	chr19:51442548-51442549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551709536	chr19:51442559-51442560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570123787	chr19:51442585-51442586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568544800	chr19:51442625-51442626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58884182	chr19:51442653-51442654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577750135	chr19:51442665-51442666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369004589	chr19:51442678-51442679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51434000-51453200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51437400-51446400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:51440000-51445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:51440000-51445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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