Variant report

Variant	esv3417891
Chromosome Location	chr19:27740890-27756817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177238	chromatin interactions

Extended variants
information (count: 2144 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:2144 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538417348	chr19:27740891-27740892	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs57005939	chr19:27740892-27740893	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552620522	chr19:27740916-27740917	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200162273	chr19:27740934-27740935	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574427144	chr19:27740947-27740948	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535702073	chr19:27740948-27740949	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554051101	chr19:27740953-27740954	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112055521	chr19:27740954-27740955	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113831572	chr19:27740965-27740966	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550663510	chr19:27740973-27740974	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570964937	chr19:27740981-27740982	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149186626	chr19:27740983-27740984	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564188810	chr19:27740986-27740987	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576093646	chr19:27740990-27740991	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543635535	chr19:27740998-27740999	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561910540	chr19:27741004-27741005	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201215728	chr19:27741005-27741006	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529105096	chr19:27741010-27741011	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62133488	chr19:27741030-27741031	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547675378	chr19:27741033-27741034	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62133489	chr19:27741034-27741035	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189565226	chr19:27741036-27741037	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62133490	chr19:27741039-27741040	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62133491	chr19:27741041-27741042	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201495109	chr19:27741042-27741043	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112194208	chr19:27741047-27741048	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62133492	chr19:27741051-27741052	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559404925	chr19:27741053-27741054	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62133516	chr19:27741067-27741068	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62133517	chr19:27741069-27741070	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201016865	chr19:27741070-27741071	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570913840	chr19:27741072-27741073	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112562026	chr19:27741075-27741076	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537996537	chr19:27741080-27741081	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539253551	chr19:27741083-27741084	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201876396	chr19:27741088-27741089	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200459296	chr19:27741089-27741090	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185016181	chr19:27741103-27741104	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549862265	chr19:27741106-27741107	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568272181	chr19:27741108-27741109	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146854041	chr19:27741111-27741112	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554415764	chr19:27741117-27741118	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189382524	chr19:27741119-27741120	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201936635	chr19:27741120-27741121	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572679747	chr19:27741122-27741123	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201685665	chr19:27741125-27741126	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553159587	chr19:27741141-27741142	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114175553	chr19:27741144-27741145	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200616562	chr19:27741175-27741176	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557511257	chr19:27741178-27741179	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27741000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:27731800-27741000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:27731800-27741000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr19:27731800-27741000	ZNF genes & repeats	Fetal Brain Male	brain
5	chr19:27731800-27741800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:27740800-27743400	Weak transcription	HUVEC	blood vessel
7	chr19:27740800-27743400	Weak transcription	NH-A	brain
8	chr19:27740800-27744200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:27740800-27755200	Weak transcription	K562	blood
10	chr19:27741000-27743200	Weak transcription	Fetal Brain Male	brain
11	chr19:27741800-27742800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:27742800-27746200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:27743200-27745200	ZNF genes & repeats	HepG2	liver
14	chr19:27743200-27745400	ZNF genes & repeats	Fetal Brain Male	brain
15	chr19:27743400-27743600	ZNF genes & repeats	HUVEC	blood vessel
16	chr19:27743400-27743600	ZNF genes & repeats	NH-A	brain
17	chr19:27743400-27746000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:27743600-27745600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr19:27743600-27745600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:27743600-27746000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:27744000-27744800	ZNF genes & repeats	Liver	Liver
22	chr19:27745000-27745400	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr19:27745200-27745800	ZNF genes & repeats	HUVEC	blood vessel
24	chr19:27745400-27746200	Weak transcription	NH-A	brain
25	chr19:27745800-27749600	Weak transcription	HUVEC	blood vessel
26	chr19:27747200-27749600	Weak transcription	NH-A	brain
27	chr19:27749000-27749600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:27749400-27750800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr19:27749600-27749800	ZNF genes & repeats	HUVEC	blood vessel
33	chr19:27749600-27749800	ZNF genes & repeats	NH-A	brain
34	chr19:27749600-27750000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:27749600-27750400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr19:27749600-27750400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr19:27749600-27750400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr19:27749800-27750400	Active TSS	Aorta	Aorta
40	chr19:27749800-27750400	ZNF genes & repeats	Liver	Liver
41	chr19:27749800-27750600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr19:27749800-27756600	Weak transcription	NH-A	brain
43	chr19:27750000-27750600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:27750000-27750600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:27750000-27750600	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr19:27750000-27752200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:27750200-27750400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr19:27750200-27750600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:27750200-27750600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:27750200-27750600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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