Variant report

Variant	esv2763209
Chromosome Location	chr19:51565642-51566412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51564427..51566399-chr19:51608791..51611738,2	K562	blood:
2	chr19:51529957..51532626-chr19:51566053..51568758,2	MCF-7	breast:
3	chr19:51558638..51560298-chr19:51563645..51566224,2	K562	blood:
4	chr19:51564407..51566352-chr19:51566436..51568565,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142544	chromatin interactions
ENSG00000167759	chromatin interactions
ENSG00000167757	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552609398	chr19:51565672-51565673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs553574253	chr19:51565679-51565680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536694329	chr19:51565681-51565682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28464578	chr19:51565694-51565695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543890562	chr19:51565707-51565708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111562883	chr19:51565731-51565732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148942767	chr19:51565738-51565739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529692094	chr19:51565750-51565751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs180934110	chr19:51565789-51565790	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567114768	chr19:51565810-51565811	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527884973	chr19:51565812-51565813	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112375606	chr19:51565813-51565814	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142805455	chr19:51565873-51565874	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116886374	chr19:51565955-51565956	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs138501739	chr19:51565971-51565972	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2569475	chr19:51565975-51565976	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs4575635	chr19:51566035-51566036	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs118018502	chr19:51566036-51566037	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373008148	chr19:51566115-51566116	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568408610	chr19:51566144-51566145	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs1404320	chr19:51566146-51566147	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539907107	chr19:51566158-51566159	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs1080668	chr19:51566170-51566171	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs151026699	chr19:51566187-51566188	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs1404319	chr19:51566197-51566198	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs189482470	chr19:51566200-51566201	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1404318	chr19:51566231-51566232	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs562237434	chr19:51566244-51566245	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs397940177	chr19:51566245-51566246	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs574359439	chr19:51566256-51566257	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs1080669	chr19:51566268-51566269	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs543043079	chr19:51566344-51566345	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs367984540	chr19:51566350-51566351	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540707614	chr19:51566354-51566355	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552887299	chr19:51566388-51566389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Adrenocortical carcinoma	18281524	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51555800-51567800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51559800-51567800	Weak transcription	HMEC	breast
3	chr19:51562400-51566800	Weak transcription	Esophagus	oesophagus
4	chr19:51565800-51566200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:51565800-51568800	Enhancers	Pancreas	Pancrea

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