Variant report

Variant	esv3411278
Chromosome Location	chr19:44695850-44696765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44688774..44691005-chr19:44695684..44698395,2	MCF-7	breast:
2	chr19:44693958..44697064-chr19:44702078..44704659,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543825662	chr19:44695916-44695917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560206563	chr19:44695918-44695919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564053824	chr19:44695930-44695931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180807095	chr19:44695937-44695938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73567972	chr19:44695946-44695947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143982171	chr19:44696000-44696001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139914402	chr19:44696006-44696007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529421419	chr19:44696154-44696155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186089822	chr19:44696167-44696168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76905469	chr19:44696186-44696187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563007907	chr19:44696195-44696196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2031033	chr19:44696257-44696258	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551389249	chr19:44696280-44696281	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73567974	chr19:44696284-44696285	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs367781806	chr19:44696301-44696302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534066744	chr19:44696339-44696340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191384610	chr19:44696353-44696354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566331415	chr19:44696375-44696376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535263911	chr19:44696392-44696393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555648518	chr19:44696398-44696399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371622094	chr19:44696439-44696440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117231122	chr19:44696463-44696464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143589715	chr19:44696496-44696497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538142620	chr19:44696502-44696503	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557828642	chr19:44696505-44696506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115259811	chr19:44696506-44696507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540336013	chr19:44696517-44696518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560261910	chr19:44696518-44696519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10421587	chr19:44696519-44696520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374644886	chr19:44696582-44696583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143387598	chr19:44696612-44696613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199543239	chr19:44696623-44696624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181428691	chr19:44696627-44696628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528044186	chr19:44696652-44696653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540095722	chr19:44696661-44696662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563076204	chr19:44696662-44696663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11284863	chr19:44696705-44696706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44682200-44711200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr19:44682400-44704800	Weak transcription	Brain Germinal Matrix	brain
3	chr19:44692600-44700200	Weak transcription	Fetal Brain Female	brain
4	chr19:44696200-44696600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:44696400-44696600	ZNF genes & repeats	Aorta	Aorta
6	chr19:44696600-44698200	Weak transcription	Aorta	Aorta

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