Variant report

Variant	esv3442010
Chromosome Location	chr19:24590412-24631782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1940 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:1940 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558989568	chr19:24593203-24593204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576744171	chr19:24593207-24593208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543878866	chr19:24593216-24593217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374619793	chr19:24593217-24593218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368722098	chr19:24593223-24593224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574634097	chr19:24593229-24593230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542037930	chr19:24593232-24593233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560349700	chr19:24593233-24593234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572150305	chr19:24593256-24593257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546053109	chr19:24593260-24593261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564241182	chr19:24593270-24593271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532523474	chr19:24593279-24593280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550728304	chr19:24593280-24593281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562637598	chr19:24593323-24593324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61586220	chr19:24593351-24593352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112808226	chr19:24593352-24593353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56131245	chr19:24593357-24593358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530171330	chr19:24593360-24593361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368125172	chr19:24593392-24593393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548283519	chr19:24593413-24593414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566674801	chr19:24593451-24593452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534150894	chr19:24593468-24593469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552802068	chr19:24593473-24593474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199745666	chr19:24593475-24593476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544264211	chr19:24593482-24593483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571091581	chr19:24593484-24593485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537824815	chr19:24593501-24593502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556236726	chr19:24593515-24593516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185736200	chr19:24593528-24593529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192533284	chr19:24593532-24593533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7339567	chr19:24593549-24593550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535497247	chr19:24593561-24593562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553931918	chr19:24593574-24593575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10048469	chr19:24593577-24593578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372559184	chr19:24593596-24593597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200151228	chr19:24593608-24593609	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374441427	chr19:24593626-24593627	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572174397	chr19:24593636-24593637	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545716759	chr19:24593645-24593646	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564754456	chr19:24593649-24593650	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10048470	chr19:24593654-24593655	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564385680	chr19:24593670-24593671	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576307688	chr19:24593674-24593675	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544189086	chr19:24593705-24593706	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2902774	chr19:24593727-24593728	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562499167	chr19:24593728-24593729	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56142462	chr19:24593730-24593731	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs199924311	chr19:24593731-24593732	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548249078	chr19:24593736-24593737	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190540933	chr19:24593740-24593741	Weak transcription ZNF genes & repeats Enhancers	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24593200-24594200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:24593600-24593800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr19:24593600-24596400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:24593800-24594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:24593800-24594400	ZNF genes & repeats	Fetal Heart	heart
6	chr19:24594000-24594400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:24594000-24594600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:24594000-24597000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr19:24594200-24594400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr19:24594200-24594400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:24594200-24594400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr19:24594200-24594400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:24594200-24594400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
15	chr19:24594200-24594400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
16	chr19:24594200-24594400	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr19:24594200-24594400	ZNF genes & repeats	Colonic Mucosa	Colon
18	chr19:24594200-24594400	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:24594200-24594400	ZNF genes & repeats	Left Ventricle	heart
20	chr19:24594200-24594400	ZNF genes & repeats	Osteobl	bone
21	chr19:24594200-24594600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr19:24594200-24603400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr19:24595800-24602400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr19:24596000-24596400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:24597600-24603400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr19:24598200-24602800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:24601200-24601400	ZNF genes & repeats	HUVEC	blood vessel
28	chr19:24601200-24601600	ZNF genes & repeats	NH-A	brain
29	chr19:24601600-24608400	Weak transcription	NH-A	brain
30	chr19:24602000-24603400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr19:24615200-24617400	Weak transcription	NH-A	brain
32	chr19:24617400-24617800	ZNF genes & repeats	NH-A	brain
33	chr19:24617800-24619000	Weak transcription	NH-A	brain

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