Variant report

Variant	esv3329266
Chromosome Location	chr19:27742255-27764611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2874 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:2874 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534694672	chr19:27742256-27742257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374738679	chr19:27742259-27742260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535697853	chr19:27742260-27742261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553376397	chr19:27742262-27742263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577958580	chr19:27742275-27742276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545474745	chr19:27742288-27742289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557503828	chr19:27742289-27742290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113471021	chr19:27742292-27742293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575878621	chr19:27742298-27742299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375154333	chr19:27742310-27742311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561407327	chr19:27742316-27742317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111537068	chr19:27742352-27742353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539845119	chr19:27742363-27742364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564852287	chr19:27742373-27742374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532021740	chr19:27742390-27742391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550227348	chr19:27742394-27742395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193202488	chr19:27742406-27742407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202195676	chr19:27742451-27742452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568636582	chr19:27742470-27742471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113166339	chr19:27742472-27742473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529820485	chr19:27742474-27742475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112771880	chr19:27742508-27742509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548017886	chr19:27742510-27742511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555705889	chr19:27742520-27742521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534043681	chr19:27742524-27742525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566800078	chr19:27742531-27742532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112810255	chr19:27742536-27742537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571579975	chr19:27742538-27742539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539053989	chr19:27742539-27742540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193159048	chr19:27742554-27742555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569218500	chr19:27742559-27742560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543232771	chr19:27742561-27742562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184505140	chr19:27742563-27742564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62133524	chr19:27742576-27742577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537839394	chr19:27742595-27742596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540882211	chr19:27742600-27742601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144503128	chr19:27742607-27742608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186974344	chr19:27742621-27742622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543836158	chr19:27742626-27742627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199591908	chr19:27742634-27742635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145426350	chr19:27742635-27742636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529781850	chr19:27742644-27742645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191837614	chr19:27742649-27742650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200398395	chr19:27742658-27742659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201486610	chr19:27742665-27742666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552417402	chr19:27742675-27742676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570682725	chr19:27742685-27742686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188677606	chr19:27742686-27742687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539019193	chr19:27742693-27742694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529063360	chr19:27742696-27742697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
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
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
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27740800-27743400	Weak transcription	HUVEC	blood vessel
2	chr19:27740800-27743400	Weak transcription	NH-A	brain
3	chr19:27740800-27744200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:27740800-27755200	Weak transcription	K562	blood
5	chr19:27741000-27743200	Weak transcription	Fetal Brain Male	brain
6	chr19:27741800-27742800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:27742800-27746200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:27743200-27745200	ZNF genes & repeats	HepG2	liver
9	chr19:27743200-27745400	ZNF genes & repeats	Fetal Brain Male	brain
10	chr19:27743400-27743600	ZNF genes & repeats	HUVEC	blood vessel
11	chr19:27743400-27743600	ZNF genes & repeats	NH-A	brain
12	chr19:27743400-27746000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr19:27743600-27745600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr19:27743600-27745600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:27743600-27746000	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:27744000-27744800	ZNF genes & repeats	Liver	Liver
17	chr19:27745000-27745400	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr19:27745200-27745800	ZNF genes & repeats	HUVEC	blood vessel
19	chr19:27745400-27746200	Weak transcription	NH-A	brain
20	chr19:27745800-27749600	Weak transcription	HUVEC	blood vessel
21	chr19:27747200-27749600	Weak transcription	NH-A	brain
22	chr19:27749000-27749600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:27749400-27750800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr19:27749600-27749800	ZNF genes & repeats	HUVEC	blood vessel
28	chr19:27749600-27749800	ZNF genes & repeats	NH-A	brain
29	chr19:27749600-27750000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:27749600-27750400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr19:27749600-27750400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr19:27749600-27750400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr19:27749800-27750400	Active TSS	Aorta	Aorta
35	chr19:27749800-27750400	ZNF genes & repeats	Liver	Liver
36	chr19:27749800-27750600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
37	chr19:27749800-27756600	Weak transcription	NH-A	brain
38	chr19:27750000-27750600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:27750000-27750600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:27750000-27750600	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr19:27750000-27752200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:27750200-27750400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr19:27750200-27750600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:27750200-27750600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:27750200-27750600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:27750200-27750600	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr19:27750200-27750600	ZNF genes & repeats	Small Intestine	intestine
48	chr19:27750400-27750600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr19:27750600-27752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr19:27750600-27752800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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