Variant report

Variant	nsv969923
Chromosome Location	chr5:42919063-42930741
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42924589..42926644-chr5:42983759..42986055,2	MCF-7	breast:
2	chr5:42911638..42913879-chr5:42921699..42924243,2	K562	blood:
3	chr5:42923915..42925843-chr5:42928024..42929691,2	K562	blood:
4	chr5:42914797..42917737-chr5:42919672..42921552,2	K562	blood:
5	chr5:42927540..42930001-chr5:43065778..43067450,2	MCF-7	breast:
6	chr5:42919032..42920637-chr5:42923074..42925674,2	K562	blood:
7	chr5:42928813..42931600-chr5:43007922..43010335,2	MCF-7	breast:
8	chr5:42919032..42920637-chr5:42923074..42925674,2	K562	blood:
9	chr5:42923915..42925843-chr5:42928024..42929691,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPP1-1	chr5:42919976-42920126	XLOC_004802
2	lnc-SEPP1-1	chr5:42919975-42920126	NONHSAT101235
3	lnc-CCDC152-1	chr5:42922836-42922975	XLOC_004361
4	lnc-CCDC152-1	chr5:42923787-42924839	XLOC_004361

No data

Variant related genes	Relation type
ENSG00000249516	chromatin interactions
KIAA0494	miRNA target sites
NFIX	miRNA target sites
TBC1D14	miRNA target sites

Extended variants
information (count: 530 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2548366	chr5:42919122-42919123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531473101	chr5:42919168-42919169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150050366	chr5:42919232-42919233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567949761	chr5:42919233-42919234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529046337	chr5:42919268-42919269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2548367	chr5:42919269-42919270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6451655	chr5:42919280-42919281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186850399	chr5:42919340-42919341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562701506	chr5:42919354-42919355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145406973	chr5:42919355-42919356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553906287	chr5:42919369-42919370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11289952	chr5:42919391-42919392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531915445	chr5:42919394-42919395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113802442	chr5:42919403-42919404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556885521	chr5:42919406-42919407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575129604	chr5:42919408-42919409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372932517	chr5:42919409-42919410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553982892	chr5:42919421-42919422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548836228	chr5:42919424-42919425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76916775	chr5:42919437-42919438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376717069	chr5:42919450-42919451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184986500	chr5:42919462-42919463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564531777	chr5:42919474-42919475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189968095	chr5:42919479-42919480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62372097	chr5:42919482-42919483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62372098	chr5:42919521-42919522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145227721	chr5:42919548-42919549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544224204	chr5:42919563-42919564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547531066	chr5:42919594-42919595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182136041	chr5:42919609-42919610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59714873	chr5:42919644-42919645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551169324	chr5:42919681-42919682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6451656	chr5:42919685-42919686	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529763746	chr5:42919687-42919688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537039094	chr5:42919734-42919735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557851600	chr5:42919778-42919779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149711614	chr5:42919799-42919800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377749256	chr5:42919839-42919840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185192624	chr5:42919840-42919841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373536412	chr5:42919843-42919844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140876599	chr5:42919845-42919846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568727994	chr5:42919877-42919878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536070378	chr5:42919890-42919891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189224616	chr5:42919900-42919901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554315222	chr5:42919927-42919928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2548368	chr5:42919979-42919980	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs117982437	chr5:42920006-42920007	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs527520109	chr5:42920040-42920041	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs181942462	chr5:42920089-42920090	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs543366485	chr5:42920094-42920095	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42916000-42929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:42923600-42923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:42924000-42924400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:42924000-42924600	Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:42924000-42924600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:42924000-42924800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:42924200-42924400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:42924200-42924400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr5:42924400-42924600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:42924600-42924800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:42924600-42924800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:42924600-42925800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:42925800-42926400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:42928800-42929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:42929800-42930200	Enhancers	HUVEC	blood vessel
16	chr5:42930000-42931200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:42930000-42931200	Enhancers	NHEK	skin
18	chr5:42930000-42931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:42930600-42931000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links