Variant report

Variant	esv1846520
Chromosome Location	chr19:53259753-53271371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 766 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28702875	chr19:53259753-53259754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143750609	chr19:53259843-53259844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557753774	chr19:53259845-53259846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138448364	chr19:53259899-53259900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537381859	chr19:53259908-53259909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35200599	chr19:53259915-53259916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555241297	chr19:53259917-53259918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573539123	chr19:53259924-53259925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs55893712	chr19:53259943-53259944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551415316	chr19:53259944-53259945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552700239	chr19:53259977-53259978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532689951	chr19:53260001-53260002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371446413	chr19:53260010-53260011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531279842	chr19:53260017-53260018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186919359	chr19:53260033-53260034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7258216	chr19:53260049-53260050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549373834	chr19:53260076-53260077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374736819	chr19:53260100-53260101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146155067	chr19:53260105-53260106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369934145	chr19:53260110-53260111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531583742	chr19:53260128-53260129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544136978	chr19:53260160-53260161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533414411	chr19:53260180-53260181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138798972	chr19:53260204-53260205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373392276	chr19:53260213-53260214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141974683	chr19:53260228-53260229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375780530	chr19:53260245-53260246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58650786	chr19:53260246-53260247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112419053	chr19:53260256-53260257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375593715	chr19:53260257-53260258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368560190	chr19:53260258-53260259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533086163	chr19:53260259-53260260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397732339	chr19:53260267-53260268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150834122	chr19:53260273-53260274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569682197	chr19:53260284-53260285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536630906	chr19:53260288-53260289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369012635	chr19:53260314-53260315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534684654	chr19:53260315-53260316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547132113	chr19:53260323-53260324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548527750	chr19:53260375-53260376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191547128	chr19:53260392-53260393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139295640	chr19:53260397-53260398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150022183	chr19:53260406-53260407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144543445	chr19:53260431-53260432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577746724	chr19:53260468-53260469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539949938	chr19:53260476-53260477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539113867	chr19:53260477-53260478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139673905	chr19:53260494-53260495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543456270	chr19:53260508-53260509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145271718	chr19:53260512-53260513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53253400-53261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:53258800-53260000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:53259000-53264600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:53259600-53260200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr19:53259800-53260600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:53260000-53260200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr19:53260000-53260400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr19:53260000-53260400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr19:53260000-53260600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:53260200-53260400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:53260200-53261600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:53260200-53261600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:53260400-53261600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:53260400-53261600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:53260600-53261600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:53260600-53262000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:53261200-53262200	Enhancers	Dnd41	blood
18	chr19:53261600-53261800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:53261600-53261800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:53261600-53261800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr19:53261600-53262000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr19:53261600-53262000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr19:53261600-53262000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr19:53261600-53262000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr19:53261600-53262000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr19:53261600-53262200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr19:53261600-53262200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:53262000-53262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:53262000-53268600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:53262000-53269000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:53262200-53262800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:53262200-53267400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:53262200-53268800	Weak transcription	Dnd41	blood
34	chr19:53263200-53267800	Enhancers	Placenta	Placenta
35	chr19:53263200-53268800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:53264600-53285200	ZNF genes & repeats	Liver	Liver
37	chr19:53265600-53272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:53265600-53282400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr19:53266600-53267000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:53267000-53267400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:53267000-53269200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:53267000-53272600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:53267200-53271800	Weak transcription	Fetal Stomach	stomach
44	chr19:53267200-53273600	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr19:53267400-53268000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:53267400-53268400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:53267800-53268800	Weak transcription	Placenta	Placenta
48	chr19:53267800-53269400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:53267800-53272000	ZNF genes & repeats	Primary T cells from cord blood	blood
50	chr19:53268000-53268800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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