Variant report

Variant	nsv597882
Chromosome Location	chr5:41902330-41903101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:41903074-41905268	GM12878	blood:	n/a	n/a
2	STAT3	chr5:41902992-41903062	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:40833991..40836420-chr5:41902681..41904929,3	K562	blood:
2	chr19:35739945..35740464-chr5:41903086..41904056,2	Hela-S3	cervix:
3	chr5:41867500..41871930-chr5:41901815..41908844,17	K562	blood:
4	chr5:41865404..41878163-chr5:41900217..41908471,28	K562	blood:
5	chr5:41901802..41904243-chr5:43119565..43121157,2	K562	blood:
6	chr5:41903013..41905286-chr5:41924628..41927661,3	MCF-7	breast:

No data

Variant related genes	Relation type
C5orf51	TF binding region
ENSG00000083720	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000248668	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576857720	chr5:41902368-41902369	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs138883427	chr5:41902370-41902371	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562692075	chr5:41902372-41902373	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs530139656	chr5:41902420-41902421	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs548326977	chr5:41902472-41902473	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560106761	chr5:41902519-41902520	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs527555388	chr5:41902539-41902540	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs544043342	chr5:41902545-41902546	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs542501572	chr5:41902604-41902605	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35194817	chr5:41902639-41902640	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs78222126	chr5:41902687-41902688	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs277411	chr5:41902711-41902712	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186580747	chr5:41902725-41902726	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs367724937	chr5:41902753-41902754	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs556935569	chr5:41902835-41902836	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs529642923	chr5:41902890-41902891	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs537882027	chr5:41902891-41902892	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs549804468	chr5:41902911-41902912	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs568121522	chr5:41902934-41902935	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs535212417	chr5:41902955-41902956	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs572043053	chr5:41902986-41902987	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs141350705	chr5:41902992-41902993	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs114902804	chr5:41903015-41903016	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs534489082	chr5:41903019-41903020	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs563410710	chr5:41903032-41903033	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs559025553	chr5:41903060-41903061	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs16872021	chr5:41903101-41903102	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	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
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41899600-41903200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:41900000-41903800	Weak transcription	Gastric	stomach
3	chr5:41900400-41903600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:41903000-41903200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:41903000-41903400	Enhancers	HepG2	liver
6	chr5:41903000-41903600	Active TSS	Fetal Brain Male	brain
7	chr5:41903000-41904000	Flanking Active TSS	Dnd41	blood
8	chr5:41903000-41905200	Active TSS	Brain Hippocampus Middle	brain

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