Variant report

Variant	nsv579108
Chromosome Location	chr19:24572619-24631604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3194 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:3194 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8189812	chr19:24572619-24572620	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201984945	chr19:24572622-24572623	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10048492	chr19:24572641-24572642	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562337274	chr19:24572648-24572649	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574317876	chr19:24572651-24572652	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542088740	chr19:24572656-24572657	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560156974	chr19:24572673-24572674	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113442793	chr19:24572675-24572676	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201742543	chr19:24572676-24572677	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527607518	chr19:24572679-24572680	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs377717613	chr19:24572682-24572683	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs202076963	chr19:24572684-24572685	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370664780	chr19:24572712-24572713	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549079804	chr19:24572722-24572723	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs60413969	chr19:24572752-24572753	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532644665	chr19:24572754-24572755	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551142297	chr19:24572755-24572756	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs569451966	chr19:24572760-24572761	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4045311	chr19:24572768-24572769	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536480849	chr19:24572790-24572791	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548785532	chr19:24572835-24572836	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567006448	chr19:24572846-24572847	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534516562	chr19:24572854-24572855	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558119705	chr19:24572869-24572870	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs199872615	chr19:24572880-24572881	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576475310	chr19:24572903-24572904	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs8189826	chr19:24572941-24572942	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs537523377	chr19:24572954-24572955	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555871086	chr19:24572955-24572956	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574493805	chr19:24572956-24572957	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541633085	chr19:24572985-24572986	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560300293	chr19:24573005-24573006	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs572207652	chr19:24573014-24573015	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546161680	chr19:24573016-24573017	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565276941	chr19:24573039-24573040	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113053797	chr19:24573050-24573051	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150191235	chr19:24573074-24573075	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532580264	chr19:24573080-24573081	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs146964704	chr19:24573097-24573098	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2902794	chr19:24573104-24573105	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374197528	chr19:24573138-24573139	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs368684173	chr19:24573140-24573141	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551078879	chr19:24573148-24573149	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562942866	chr19:24573151-24573152	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530213615	chr19:24573184-24573185	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568927061	chr19:24573195-24573196	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs548452173	chr19:24573198-24573199	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536907319	chr19:24573210-24573211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527973621	chr19:24573217-24573218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58841549	chr19:24573244-24573245	ZNF genes & repeats Weak transcription	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24507800-24577200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:24508000-24573400	ZNF genes & repeats	Liver	Liver
3	chr19:24522000-24576600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr19:24525400-24577200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr19:24572400-24573400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:24572600-24573200	Active TSS	Aorta	Aorta
7	chr19:24573000-24573400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr19:24573200-24574600	Weak transcription	Aorta	Aorta
9	chr19:24574400-24576200	ZNF genes & repeats	Dnd41	blood
10	chr19:24574600-24575800	Active TSS	Aorta	Aorta
11	chr19:24577400-24577600	ZNF genes & repeats	Aorta	Aorta
12	chr19:24577600-24578000	Weak transcription	Aorta	Aorta
13	chr19:24582600-24583200	Active TSS	Aorta	Aorta
14	chr19:24582800-24588600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr19:24583000-24588600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr19:24583200-24588600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr19:24583400-24585000	ZNF genes & repeats	Fetal Heart	heart
18	chr19:24583400-24588600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:24583800-24585800	ZNF genes & repeats	HUVEC	blood vessel
20	chr19:24584400-24588400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr19:24585000-24585200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:24586000-24586800	Weak transcription	HUVEC	blood vessel
23	chr19:24586400-24588200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:24586600-24587200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr19:24586600-24588200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:24586600-24588400	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr19:24586800-24587000	ZNF genes & repeats	NH-A	brain
28	chr19:24586800-24587200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:24586800-24588600	ZNF genes & repeats	Liver	Liver
30	chr19:24586800-24588600	ZNF genes & repeats	HUVEC	blood vessel
31	chr19:24587600-24588400	Active TSS	Aorta	Aorta
32	chr19:24587600-24588400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr19:24587800-24588200	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr19:24587800-24588400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr19:24588200-24588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:24588600-24589000	Weak transcription	HUVEC	blood vessel
37	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
42	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood

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