Variant report

Variant	nsv1067149
Chromosome Location	chr19:24582565-24596738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1179 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1179 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550172142	chr19:24582607-24582608	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562342171	chr19:24582612-24582613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs11085710	chr19:24582617-24582618	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529336482	chr19:24582623-24582624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568603867	chr19:24582630-24582631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531076121	chr19:24582637-24582638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535991440	chr19:24582642-24582643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554323075	chr19:24582648-24582649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs140937189	chr19:24582651-24582652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76296008	chr19:24582660-24582661	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533765248	chr19:24582666-24582667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558767604	chr19:24582667-24582668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192343837	chr19:24582673-24582674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148823337	chr19:24582674-24582675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12462699	chr19:24582685-24582686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75639938	chr19:24582686-24582687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543177380	chr19:24582698-24582699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561383078	chr19:24582706-24582707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528656183	chr19:24582707-24582708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs533165775	chr19:24582721-24582722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565532880	chr19:24582729-24582730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs532736278	chr19:24582735-24582736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78220309	chr19:24582753-24582754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139070885	chr19:24582762-24582763	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550158025	chr19:24582765-24582766	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568543067	chr19:24582779-24582780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201245500	chr19:24582793-24582794	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374053745	chr19:24582806-24582807	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566468558	chr19:24582813-24582814	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533944571	chr19:24582815-24582816	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558508310	chr19:24582824-24582825	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs577063337	chr19:24582832-24582833	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376549790	chr19:24582837-24582838	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373196284	chr19:24582841-24582842	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538168282	chr19:24582846-24582847	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184669944	chr19:24582860-24582861	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575675521	chr19:24582861-24582862	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs543066007	chr19:24582867-24582868	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561387544	chr19:24582880-24582881	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573266373	chr19:24582889-24582890	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540812944	chr19:24582902-24582903	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188963116	chr19:24582912-24582913	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79518552	chr19:24582916-24582917	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs183002276	chr19:24582926-24582927	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75172995	chr19:24582928-24582929	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565386367	chr19:24582929-24582930	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs79280170	chr19:24582935-24582936	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs56060218	chr19:24582936-24582937	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs78672024	chr19:24582942-24582943	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs80173021	chr19:24582946-24582947	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24582600-24583200	Active TSS	Aorta	Aorta
2	chr19:24582800-24588600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:24583000-24588600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:24583200-24588600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:24583400-24585000	ZNF genes & repeats	Fetal Heart	heart
6	chr19:24583400-24588600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:24583800-24585800	ZNF genes & repeats	HUVEC	blood vessel
8	chr19:24584400-24588400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:24585000-24585200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:24586000-24586800	Weak transcription	HUVEC	blood vessel
11	chr19:24586400-24588200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:24586600-24587200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr19:24586600-24588200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:24586600-24588400	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr19:24586800-24587000	ZNF genes & repeats	NH-A	brain
16	chr19:24586800-24587200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:24586800-24588600	ZNF genes & repeats	Liver	Liver
18	chr19:24586800-24588600	ZNF genes & repeats	HUVEC	blood vessel
19	chr19:24587600-24588400	Active TSS	Aorta	Aorta
20	chr19:24587600-24588400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:24587800-24588200	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr19:24587800-24588400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr19:24588200-24588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:24588600-24589000	Weak transcription	HUVEC	blood vessel
25	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
30	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr19:24594200-24594400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
40	chr19:24594200-24594400	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr19:24594200-24594400	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr19:24594200-24594400	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr19:24594200-24594400	ZNF genes & repeats	Left Ventricle	heart
44	chr19:24594200-24594400	ZNF genes & repeats	Osteobl	bone
45	chr19:24594200-24594600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr19:24594200-24603400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr19:24595800-24602400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr19:24596000-24596400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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