Variant report

Variant	esv3386631
Chromosome Location	chr19:24583465-24599169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1273 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556383794	chr19:24583468-24583469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574768688	chr19:24583469-24583470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542190510	chr19:24583487-24583488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560855053	chr19:24583508-24583509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs62135754	chr19:24583513-24583514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs527264325	chr19:24583528-24583529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372062292	chr19:24583568-24583569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545787586	chr19:24583573-24583574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187252946	chr19:24583578-24583579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201493376	chr19:24583587-24583588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199679155	chr19:24583598-24583599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564129567	chr19:24583609-24583610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531476055	chr19:24583636-24583637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113206535	chr19:24583638-24583639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549997988	chr19:24583668-24583669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561893948	chr19:24583679-24583680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529188372	chr19:24583691-24583692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547342738	chr19:24583692-24583693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200686256	chr19:24583704-24583705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201290263	chr19:24583707-24583708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565988698	chr19:24583709-24583710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs8190062	chr19:24583767-24583768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533896512	chr19:24583801-24583802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552553569	chr19:24583816-24583817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570605276	chr19:24583817-24583818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs1987691	chr19:24583822-24583823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537973848	chr19:24583830-24583831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556320278	chr19:24583835-24583836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574656176	chr19:24583855-24583856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs8187041	chr19:24583856-24583857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568866683	chr19:24583858-24583859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536066658	chr19:24583874-24583875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554122317	chr19:24583901-24583902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572706948	chr19:24583902-24583903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545473812	chr19:24583909-24583910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs564117573	chr19:24583917-24583918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7339457	chr19:24583918-24583919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576185233	chr19:24583950-24583951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs191767438	chr19:24583952-24583953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs543578708	chr19:24583954-24583955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561784530	chr19:24583956-24583957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529052990	chr19:24583957-24583958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183806018	chr19:24583977-24583978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547574520	chr19:24583984-24583985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376681187	chr19:24583987-24583988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559347400	chr19:24583998-24583999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112364956	chr19:24584002-24584003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79609620	chr19:24584011-24584012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79816372	chr19:24584021-24584022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533302452	chr19:24584025-24584026	ZNF genes & repeats	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24582800-24588600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:24583000-24588600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:24583200-24588600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr19:24583400-24585000	ZNF genes & repeats	Fetal Heart	heart
5	chr19:24583400-24588600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:24583800-24585800	ZNF genes & repeats	HUVEC	blood vessel
7	chr19:24584400-24588400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr19:24585000-24585200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:24586000-24586800	Weak transcription	HUVEC	blood vessel
10	chr19:24586400-24588200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:24586600-24587200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr19:24586600-24588200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:24586600-24588400	ZNF genes & repeats	Psoas Muscle	Psoas
14	chr19:24586800-24587000	ZNF genes & repeats	NH-A	brain
15	chr19:24586800-24587200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:24586800-24588600	ZNF genes & repeats	Liver	Liver
17	chr19:24586800-24588600	ZNF genes & repeats	HUVEC	blood vessel
18	chr19:24587600-24588400	Active TSS	Aorta	Aorta
19	chr19:24587600-24588400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:24587800-24588200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:24587800-24588400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
22	chr19:24588200-24588400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:24588600-24589000	Weak transcription	HUVEC	blood vessel
24	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
29	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr19:24594200-24594400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
39	chr19:24594200-24594400	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr19:24594200-24594400	ZNF genes & repeats	Colonic Mucosa	Colon
41	chr19:24594200-24594400	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr19:24594200-24594400	ZNF genes & repeats	Left Ventricle	heart
43	chr19:24594200-24594400	ZNF genes & repeats	Osteobl	bone
44	chr19:24594200-24594600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr19:24594200-24603400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr19:24595800-24602400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr19:24596000-24596400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr19:24597600-24603400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr19:24598200-24602800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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