Variant report

Variant	esv3425989
Chromosome Location	chr19:44910926-44911611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73032368	chr19:44911003-44911004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537066666	chr19:44911015-44911016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11881426	chr19:44911016-44911017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145273320	chr19:44911020-44911021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60008292	chr19:44911028-44911029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79724527	chr19:44911033-44911034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573483711	chr19:44911036-44911037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571051843	chr19:44911089-44911090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148242726	chr19:44911090-44911091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139014598	chr19:44911097-44911098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538914046	chr19:44911106-44911107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558531066	chr19:44911176-44911177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142250691	chr19:44911181-44911182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187312439	chr19:44911203-44911204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375309166	chr19:44911205-44911206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189320244	chr19:44911243-44911244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540941424	chr19:44911244-44911245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574177082	chr19:44911280-44911281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565203250	chr19:44911294-44911295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537296514	chr19:44911302-44911303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113004914	chr19:44911309-44911310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532575473	chr19:44911346-44911347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374735911	chr19:44911352-44911353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577329283	chr19:44911388-44911389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546481834	chr19:44911390-44911391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540459861	chr19:44911402-44911403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559767961	chr19:44911403-44911404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369044941	chr19:44911404-44911405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544352516	chr19:44911408-44911409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2722665	chr19:44911414-44911415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs148198138	chr19:44911420-44911421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531022140	chr19:44911421-44911422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550039049	chr19:44911452-44911453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73032372	chr19:44911453-44911454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141164811	chr19:44911473-44911474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574980519	chr19:44911527-44911528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73032375	chr19:44911541-44911542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546927901	chr19:44911580-44911581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571522600	chr19:44911581-44911582	Weak transcription	n/a	n/a	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	17431168	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44906000-44915200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:44906800-44915200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr19:44906800-44915200	Weak transcription	Ovary	ovary
4	chr19:44907400-44915200	Weak transcription	Right Atrium	heart

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