Variant report

Variant	nsv520705
Chromosome Location	chr19:51574038-51575424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51569153..51571193-chr19:51574240..51576462,2	MCF-7	breast:
2	chr19:51571883..51577686-chr19:51593894..51597603,10	MCF-7	breast:
3	chr19:51574188..51575929-chr19:51577525..51579949,2	MCF-7	breast:
4	chr19:51547379..51548022-chr19:51574046..51574733,2	MCF-7	breast:
5	chr19:51547984..51550695-chr19:51574702..51576644,2	MCF-7	breast:
6	chr19:51527498..51530009-chr19:51572818..51575532,3	MCF-7	breast:
7	chr19:51472215..51472723-chr19:51573940..51574763,2	MCF-7	breast:
8	chr19:51567181..51568782-chr19:51572283..51574552,2	MCF-7	breast:
9	chr19:51574629..51577563-chr19:51588305..51590933,2	MCF-7	breast:
10	chr19:51572190..51574304-chr19:51595106..51597426,2	MCF-7	breast:
11	chr19:51574167..51574904-chr19:51596237..51596983,4	MCF-7	breast:
12	chr19:51574263..51576196-chr19:51824067..51826826,2	K562	blood:
13	chr19:51535511..51537089-chr19:51573976..51575477,2	K562	blood:
14	chr19:51574473..51576277-chr19:51596548..51598484,2	MCF-7	breast:
15	chr19:51572582..51577335-chr19:51583867..51587777,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129437	chromatin interactions
ENSG00000167755	chromatin interactions
ENSG00000167757	chromatin interactions
ENSG00000167759	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7351079	chr19:51574038-51574039	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572047081	chr19:51574061-51574062	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs150652132	chr19:51574092-51574093	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs558157294	chr19:51574106-51574107	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs182199186	chr19:51574215-51574216	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs78560812	chr19:51574368-51574369	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs377430755	chr19:51574435-51574436	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562231384	chr19:51574436-51574437	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs574086396	chr19:51574468-51574469	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs7253169	chr19:51574472-51574473	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143593145	chr19:51574512-51574513	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs372365850	chr19:51574547-51574548	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs146774604	chr19:51574557-51574558	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs564181667	chr19:51574560-51574561	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs7253072	chr19:51574594-51574595	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549677898	chr19:51574635-51574636	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs185536559	chr19:51574637-51574638	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2569479	chr19:51574639-51574640	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs11879460	chr19:51574659-51574660	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs369138491	chr19:51574690-51574691	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs565716529	chr19:51574695-51574696	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372172948	chr19:51574721-51574722	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs558430097	chr19:51574774-51574775	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1880412	chr19:51574793-51574794	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181477507	chr19:51574797-51574798	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76370507	chr19:51574802-51574803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573893901	chr19:51574803-51574804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541169285	chr19:51574826-51574827	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559380586	chr19:51574859-51574860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185569706	chr19:51574907-51574908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs145396720	chr19:51574913-51574914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564424306	chr19:51574917-51574918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560823374	chr19:51574943-51574944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs62114140	chr19:51575009-51575010	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143338944	chr19:51575041-51575042	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372597405	chr19:51575042-51575043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147589009	chr19:51575052-51575053	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189983370	chr19:51575053-51575054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs180898953	chr19:51575058-51575059	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs532978548	chr19:51575063-51575064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557024830	chr19:51575072-51575073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551054974	chr19:51575074-51575075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569612749	chr19:51575097-51575098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575294100	chr19:51575102-51575103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185905572	chr19:51575121-51575122	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs142017972	chr19:51575124-51575125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561979935	chr19:51575131-51575132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534846100	chr19:51575141-51575142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553074385	chr19:51575147-51575148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs145781709	chr19:51575154-51575155	Weak transcription	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51573200-51574800	Enhancers	HMEC	breast
2	chr19:51573400-51574600	Enhancers	K562	blood
3	chr19:51573600-51574600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:51573600-51574600	Enhancers	NHEK	skin
5	chr19:51573600-51574800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:51573600-51574800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:51573800-51574200	Enhancers	Pancreas	Pancrea
8	chr19:51573800-51574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:51574200-51582600	Weak transcription	Pancreas	Pancrea
10	chr19:51574600-51574800	Bivalent Enhancer	K562	blood
11	chr19:51574800-51579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:51574800-51579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links