Variant report

Variant	esv3337982
Chromosome Location	chr19:54326190-54327438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189605067	chr19:54326211-54326212	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs62143206	chr19:54326212-54326213	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs527444059	chr19:54326239-54326240	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181371842	chr19:54326245-54326246	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185857379	chr19:54326249-54326250	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189095445	chr19:54326266-54326267	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555779055	chr19:54326269-54326270	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567701198	chr19:54326296-54326297	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs62143207	chr19:54326346-54326347	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77284763	chr19:54326352-54326353	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74394542	chr19:54326354-54326355	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs137959316	chr19:54326358-54326359	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532442453	chr19:54326375-54326376	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs554809480	chr19:54326384-54326385	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs78215353	chr19:54326387-54326388	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181832055	chr19:54326388-54326389	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142445645	chr19:54326390-54326391	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534661992	chr19:54326405-54326406	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368274669	chr19:54326406-54326407	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565319475	chr19:54326478-54326479	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201329485	chr19:54326504-54326505	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546000214	chr19:54326530-54326531	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540634193	chr19:54326570-54326571	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371590885	chr19:54326647-54326648	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373867430	chr19:54326669-54326670	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373491385	chr19:54326670-54326671	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368815949	chr19:54326677-54326678	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372332418	chr19:54326683-54326684	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543548894	chr19:54326684-54326685	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552402966	chr19:54326703-54326704	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187325078	chr19:54326707-54326708	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376319221	chr19:54326714-54326715	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190929961	chr19:54326727-54326728	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370751503	chr19:54326745-54326746	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370451279	chr19:54326750-54326751	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376050625	chr19:54326763-54326764	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376806458	chr19:54326765-54326766	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369390784	chr19:54326771-54326772	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374272272	chr19:54326773-54326774	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373184790	chr19:54326778-54326779	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368152818	chr19:54326782-54326783	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs58097899	chr19:54326783-54326784	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577309574	chr19:54326797-54326798	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544365927	chr19:54326798-54326799	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370457516	chr19:54326801-54326802	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs374436998	chr19:54326803-54326804	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375543022	chr19:54326810-54326811	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs550699202	chr19:54326821-54326822	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368548233	chr19:54326867-54326868	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530086782	chr19:54326932-54326933	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54302000-54327200	Weak transcription	Lung	lung
2	chr19:54313800-54327000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:54314000-54327400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:54314400-54327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:54314600-54327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:54314600-54327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:54318400-54327000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:54318400-54327000	Weak transcription	Spleen	Spleen
9	chr19:54318400-54327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:54318400-54327200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:54318800-54327200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:54321200-54327200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:54322400-54326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:54323600-54327000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:54324200-54326400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:54324800-54326200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr19:54325400-54327800	Active TSS	Primary B cells from cord blood	blood
18	chr19:54326000-54326200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr19:54326000-54327000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:54326200-54327800	Active TSS	Primary monocytes fromperipheralblood	blood
21	chr19:54326200-54327800	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr19:54326400-54326800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:54326800-54327000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:54326800-54327000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:54326800-54328600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr19:54327000-54327200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:54327000-54327400	Enhancers	Primary hematopoietic stem cells	blood
28	chr19:54327000-54327400	Active TSS	Adipose Nuclei	Adipose
29	chr19:54327000-54327400	Bivalent Enhancer	Placenta	Placenta
30	chr19:54327000-54327600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr19:54327000-54327600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:54327000-54327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:54327000-54327600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:54327000-54327600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:54327000-54327600	Active TSS	Right Atrium	heart
36	chr19:54327000-54327600	ZNF genes & repeats	Spleen	Spleen
37	chr19:54327000-54327800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr19:54327000-54327800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr19:54327000-54327800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:54327000-54328000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr19:54327000-54328400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:54327200-54327400	Flanking Active TSS	Liver	Liver
43	chr19:54327200-54327400	Flanking Bivalent TSS/Enh	Lung	lung
44	chr19:54327200-54327400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr19:54327200-54327400	Flanking Active TSS	HepG2	liver
46	chr19:54327200-54327600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:54327200-54327600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:54327200-54327600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:54327200-54327600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr19:54327200-54327800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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