Variant report

Variant	nsv828581
Chromosome Location	chr19:51109572-51124716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51109418..51112998-chr19:51159027..51162201,6	K562	blood:
2	chr19:51109906..51112856-chr19:51294280..51296293,2	K562	blood:
3	chr19:51110056..51112953-chr19:51162682..51165400,3	K562	blood:
4	chr19:51108915..51112953-chr19:51162682..51166555,5	K562	blood:
5	chr19:51109418..51112978-chr19:51159521..51162574,6	K562	blood:
6	chr19:51103570..51107800-chr19:51108221..51112163,4	K562	blood:

Variant related genes	Relation type
ENSG00000161681	chromatin interactions
ENSG00000235034	chromatin interactions

Extended variants
information (count: 468 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73932539	chr19:51109606-51109607	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143554370	chr19:51109644-51109645	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189190958	chr19:51109667-51109668	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2431826	chr19:51109713-51109714	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556380500	chr19:51109722-51109723	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143055137	chr19:51109761-51109762	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192859452	chr19:51109775-51109776	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553936116	chr19:51109779-51109780	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572155452	chr19:51109785-51109786	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1895373	chr19:51109793-51109794	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs183835733	chr19:51109796-51109797	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147455093	chr19:51109799-51109800	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543770016	chr19:51109809-51109810	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73932540	chr19:51109819-51109820	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376656207	chr19:51109825-51109826	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529273697	chr19:51109829-51109830	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs117066094	chr19:51109833-51109834	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544485888	chr19:51109838-51109839	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565873256	chr19:51109860-51109861	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187117304	chr19:51109861-51109862	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551803166	chr19:51109887-51109888	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1895374	chr19:51109930-51109931	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs140776742	chr19:51109958-51109959	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73932541	chr19:51109992-51109993	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535260351	chr19:51109996-51109997	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556205096	chr19:51110001-51110002	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377541817	chr19:51110005-51110006	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11879676	chr19:51110044-51110045	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572218685	chr19:51110051-51110052	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs150049563	chr19:51110058-51110059	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs557794809	chr19:51110078-51110079	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112999828	chr19:51110104-51110105	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs144349034	chr19:51110126-51110127	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562274214	chr19:51110171-51110172	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200190699	chr19:51110172-51110173	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529530874	chr19:51110179-51110180	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs35273391	chr19:51110180-51110181	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35744041	chr19:51110181-51110182	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572371030	chr19:51110182-51110183	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551597981	chr19:51110237-51110238	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570105603	chr19:51110244-51110245	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549221305	chr19:51110246-51110247	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11879765	chr19:51110248-51110249	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111251078	chr19:51110258-51110259	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184181767	chr19:51110259-51110260	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs547666655	chr19:51110273-51110274	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs11879716	chr19:51110284-51110285	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539407353	chr19:51110285-51110286	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs377103001	chr19:51110359-51110360	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192750977	chr19:51110368-51110369	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51107800-51109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51109000-51109800	Active TSS	Brain Substantia Nigra	brain
3	chr19:51109000-51110800	Active TSS	Brain Anterior Caudate	brain
4	chr19:51109000-51110800	Enhancers	Brain Hippocampus Middle	brain
5	chr19:51109200-51109800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr19:51109400-51109600	Bivalent Enhancer	Fetal Brain Male	brain
7	chr19:51109400-51109800	Enhancers	Brain Cingulate Gyrus	brain
8	chr19:51109400-51110200	Enhancers	K562	blood
9	chr19:51109400-51110800	Weak transcription	Brain Angular Gyrus	brain
10	chr19:51109800-51110000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr19:51109800-51110000	Active TSS	Brain Cingulate Gyrus	brain
12	chr19:51109800-51110600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:51109800-51110600	Weak transcription	Brain Substantia Nigra	brain
14	chr19:51109800-51111000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:51110000-51110800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:51110200-51110600	Weak transcription	K562	blood
17	chr19:51110400-51110800	Bivalent Enhancer	Fetal Brain Male	brain
18	chr19:51110600-51110800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr19:51110600-51110800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:51110600-51111000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:51110600-51111000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr19:51110600-51111000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr19:51110600-51111000	Enhancers	K562	blood
24	chr19:51110600-51111200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr19:51110600-51111200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr19:51110600-51111200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
27	chr19:51110600-51111800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr19:51110600-51112000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr19:51110600-51112000	ZNF genes & repeats	Spleen	Spleen
30	chr19:51110800-51111000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:51110800-51111000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:51110800-51111000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:51110800-51111000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:51110800-51111000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:51110800-51111000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr19:51110800-51111000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:51110800-51111000	Enhancers	Fetal Brain Male	brain
38	chr19:51110800-51111000	Bivalent Enhancer	Left Ventricle	heart
39	chr19:51110800-51111200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:51110800-51111200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr19:51110800-51111200	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr19:51110800-51111200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr19:51110800-51111200	Bivalent Enhancer	Fetal Heart	heart
44	chr19:51110800-51111400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr19:51110800-51111400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr19:51110800-51111400	Bivalent Enhancer	Colonic Mucosa	Colon
47	chr19:51110800-51111400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr19:51110800-51111600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
49	chr19:51110800-51111600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:51110800-51111800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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