Variant report

Variant	nsv579860
Chromosome Location	chr19:44958384-44962865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 529 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs204528	chr19:44958384-44958385	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570958339	chr19:44958393-44958394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186871826	chr19:44958405-44958406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs204527	chr19:44958413-44958414	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs112966944	chr19:44958414-44958415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146757285	chr19:44958425-44958426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs74791516	chr19:44958436-44958437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs77967946	chr19:44958438-44958439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201449605	chr19:44958440-44958441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574970778	chr19:44958443-44958444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553238602	chr19:44958484-44958485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566658724	chr19:44958518-44958519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs375446549	chr19:44958519-44958520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535794779	chr19:44958540-44958541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190315179	chr19:44958567-44958568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200073711	chr19:44958570-44958571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs542268686	chr19:44958586-44958587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs115277053	chr19:44958600-44958601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs204526	chr19:44958609-44958610	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs202075258	chr19:44958612-44958613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201598515	chr19:44958636-44958637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572369862	chr19:44958646-44958647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577353027	chr19:44958654-44958655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539930817	chr19:44958668-44958669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560363794	chr19:44958674-44958675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573497698	chr19:44958683-44958684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529452078	chr19:44958684-44958685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181176423	chr19:44958699-44958700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs199887022	chr19:44958729-44958730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200983667	chr19:44958731-44958732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543168793	chr19:44958740-44958741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563056580	chr19:44958765-44958766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536042943	chr19:44958782-44958783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540163803	chr19:44958801-44958802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs202125591	chr19:44958806-44958807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181967017	chr19:44958808-44958809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551510874	chr19:44958823-44958824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs145660469	chr19:44958824-44958825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77610797	chr19:44958848-44958849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76378050	chr19:44958854-44958855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201993460	chr19:44958892-44958893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565142018	chr19:44958904-44958905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547907677	chr19:44958920-44958921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185126512	chr19:44958923-44958924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs187428430	chr19:44958927-44958928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555511714	chr19:44958938-44958939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374836834	chr19:44958939-44958940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532255135	chr19:44958948-44958949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77302394	chr19:44958954-44958955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs204525	chr19:44958955-44958956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
2	chr19:44955200-44959800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44959000-44959400	Weak transcription	Stomach Mucosa	stomach
4	chr19:44959000-44960000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44959400-44959800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr19:44959400-44959800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:44959400-44959800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:44959400-44959800	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:44959400-44959800	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr19:44959400-44959800	ZNF genes & repeats	Stomach Mucosa	stomach
11	chr19:44959800-44961000	Weak transcription	Adipose Nuclei	Adipose
12	chr19:44959800-44961000	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:44959800-44961200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:44959800-44961200	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:44959800-44961200	Weak transcription	Stomach Mucosa	stomach
16	chr19:44960000-44961000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:44960800-44962000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr19:44961000-44961600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr19:44961000-44961600	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr19:44961000-44961800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:44961000-44961800	ZNF genes & repeats	Spleen	Spleen
22	chr19:44961000-44962000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr19:44961000-44962000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr19:44961000-44962200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr19:44961000-44963200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:44961000-44964400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr19:44961200-44961400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:44961200-44961400	ZNF genes & repeats	Pancreas	Pancrea
29	chr19:44961200-44961400	Active TSS	NHLF	lung
30	chr19:44961200-44961600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:44961200-44961600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:44961200-44961600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr19:44961200-44961600	ZNF genes & repeats	Liver	Liver
34	chr19:44961200-44961600	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:44961200-44961600	ZNF genes & repeats	Gastric	stomach
36	chr19:44961200-44961600	ZNF genes & repeats	Stomach Mucosa	stomach
37	chr19:44961200-44961600	ZNF genes & repeats	K562	blood
38	chr19:44961200-44961800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:44961200-44961800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:44961400-44961600	ZNF genes & repeats	Right Atrium	heart
41	chr19:44961400-44961600	ZNF genes & repeats	HSMMtube	muscle
42	chr19:44961600-44963200	Weak transcription	K562	blood

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