Variant report

Variant	esv3333260
Chromosome Location	chr19:56619120-56619327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56619266-56619339	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:56619122-56619153	K562	blood:	n/a	n/a
3	POLR2A	chr19:56617422-56620971	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:56619236-56619513	K562	blood:	n/a	n/a
5	POLR2A	chr19:56618614-56619136	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:56619153-56619717	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56615193..56619302-chr19:56653183..56656350,4	MCF-7	breast:
2	chr19:56619067..56621819-chr19:56683473..56686134,2	K562	blood:
3	chr19:56618895..56620681-chr19:56648201..56650740,2	K562	blood:
4	chr19:56617470..56621508-chr19:56630958..56634094,7	MCF-7	breast:
5	chr19:56617972..56620643-chr19:56620884..56623590,3	MCF-7	breast:
6	chr19:56618269..56620601-chr19:56650918..56652939,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF787	TF binding region
ENSG00000167685	chromatin interactions
ENSG00000142409	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543608917	chr19:56619150-56619151	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs550321846	chr19:56619157-56619158	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535393	chr19:56619178-56619179	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543133165	chr19:56619192-56619193	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559920201	chr19:56619201-56619202	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs528472881	chr19:56619211-56619212	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs551822477	chr19:56619213-56619214	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564191390	chr19:56619244-56619245	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs533267448	chr19:56619245-56619246	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs549663819	chr19:56619250-56619251	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs569832679	chr19:56619251-56619252	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529096258	chr19:56619252-56619253	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs137973051	chr19:56619281-56619282	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs565467678	chr19:56619285-56619286	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534282286	chr19:56619299-56619300	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
2	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:56597200-56619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:56602800-56620000	Weak transcription	NH-A	brain
6	chr19:56603200-56619800	Weak transcription	NHDF-Ad	bronchial
7	chr19:56605200-56619800	Weak transcription	HSMM	muscle
8	chr19:56605200-56620000	Weak transcription	Fetal Kidney	kidney
9	chr19:56609600-56619600	Weak transcription	Fetal Heart	heart
10	chr19:56613200-56620000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:56613600-56619800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:56615000-56619600	Weak transcription	Brain Substantia Nigra	brain
13	chr19:56615000-56620200	Weak transcription	Aorta	Aorta
14	chr19:56616000-56619200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:56616000-56619800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr19:56616000-56626600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr19:56616000-56627000	Enhancers	Liver	Liver
18	chr19:56616000-56627200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr19:56616200-56619400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:56616200-56620800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:56616600-56620400	Enhancers	Brain Hippocampus Middle	brain
22	chr19:56617000-56620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:56617200-56619200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:56617200-56619400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:56617200-56619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:56617200-56619400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:56617200-56619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:56617200-56619800	Enhancers	Primary hematopoietic stem cells	blood
29	chr19:56617200-56619800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr19:56617200-56619800	Strong transcription	Fetal Intestine Small	intestine
31	chr19:56617200-56619800	Weak transcription	Fetal Lung	lung
32	chr19:56617200-56620000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:56617200-56620000	Weak transcription	Fetal Brain Female	brain
34	chr19:56617200-56620000	Weak transcription	HUVEC	blood vessel
35	chr19:56617200-56620400	Weak transcription	Primary T cells from cord blood	blood
36	chr19:56617200-56622000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:56617200-56622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:56617200-56624400	Weak transcription	Hela-S3	cervix
39	chr19:56617200-56629200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:56617400-56619200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:56617400-56619200	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr19:56617400-56619400	Strong transcription	NHLF	lung
43	chr19:56617400-56620000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:56617400-56620800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:56617400-56620800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr19:56617400-56621000	Genic enhancers	Lung	lung
47	chr19:56617400-56622400	Weak transcription	Fetal Brain Male	brain
48	chr19:56617400-56623400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:56617600-56619200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:56617600-56619200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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