Variant report

Variant	esv3491576
Chromosome Location	chr19:51107362-51109386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51108915..51112953-chr19:51162682..51166555,5	K562	blood:
2	chr19:51103570..51107800-chr19:51108221..51112163,4	K562	blood:
3	chr19:51103570..51107800-chr19:51108221..51112163,4	K562	blood:

Variant related genes	Relation type
ENSG00000161681	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187749298	chr19:51107389-51107390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192666278	chr19:51107426-51107427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185729237	chr19:51107428-51107429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10421679	chr19:51107444-51107445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530820834	chr19:51107510-51107511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144875909	chr19:51107518-51107519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374245317	chr19:51107521-51107522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114494595	chr19:51107531-51107532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567256062	chr19:51107544-51107545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534279847	chr19:51107547-51107548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2914426	chr19:51107556-51107557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147932207	chr19:51107567-51107568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538876413	chr19:51107651-51107652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73932532	chr19:51107691-51107692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200372017	chr19:51107716-51107717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557516011	chr19:51107719-51107720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145527050	chr19:51107724-51107725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575889676	chr19:51107777-51107778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75929626	chr19:51107798-51107799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554920863	chr19:51107808-51107809	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113640951	chr19:51107818-51107819	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540600491	chr19:51107823-51107824	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71355153	chr19:51107827-51107828	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1974814	chr19:51107861-51107862	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73932535	chr19:51107897-51107898	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs71355154	chr19:51107932-51107933	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530571903	chr19:51107938-51107939	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542917824	chr19:51107941-51107942	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188257811	chr19:51107944-51107945	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528096128	chr19:51107949-51107950	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546168320	chr19:51107955-51107956	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs137868984	chr19:51107971-51107972	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114284558	chr19:51107972-51107973	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193169230	chr19:51107976-51107977	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115562340	chr19:51107977-51107978	Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536407976	chr19:51108005-51108006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116757959	chr19:51108008-51108009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12974092	chr19:51108018-51108019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141118755	chr19:51108023-51108024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113608161	chr19:51108036-51108037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184682893	chr19:51108037-51108038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12972194	chr19:51108038-51108039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12972787	chr19:51108039-51108040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534218095	chr19:51108052-51108053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558980524	chr19:51108056-51108057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73932537	chr19:51108071-51108072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113083997	chr19:51108100-51108101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556341925	chr19:51108128-51108129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575411899	chr19:51108135-51108136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542429296	chr19:51108143-51108144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51106800-51109000	Weak transcription	K562	blood
2	chr19:51107800-51108000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr19:51107800-51109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:51109000-51109200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr19:51109000-51109200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr19:51109000-51109400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr19:51109000-51109400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:51109000-51109400	Enhancers	Brain Angular Gyrus	brain
9	chr19:51109000-51109400	Bivalent/Poised TSS	A549	lung
10	chr19:51109000-51109400	Flanking Active TSS	K562	blood
11	chr19:51109000-51109800	Active TSS	Brain Substantia Nigra	brain
12	chr19:51109000-51110800	Active TSS	Brain Anterior Caudate	brain
13	chr19:51109000-51110800	Enhancers	Brain Hippocampus Middle	brain
14	chr19:51109200-51109400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:51109200-51109400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:51109200-51109400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:51109200-51109400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr19:51109200-51109400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr19:51109200-51109400	Bivalent Enhancer	Placenta	Placenta
20	chr19:51109200-51109800	Active TSS	Brain Inferior Temporal Lobe	brain

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