Variant report

Variant	esv3415476
Chromosome Location	chr5:115403090-115403682
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:
2	chr5:115402497..115406004-chr5:115407456..115411248,3	K562	blood:
3	chr5:115210792..115211545-chr5:115403396..115404332,2	MCF-7	breast:
4	chr5:114970518..114971324-chr5:115403283..115404403,4	K562	blood:
5	chr5:115175667..115177540-chr5:115402481..115405777,3	MCF-7	breast:
6	chr5:114645305..114646120-chr5:115403049..115404011,2	K562	blood:
7	chr5:114970091..114970643-chr5:115403493..115404412,2	MCF-7	breast:
8	chr5:115402359..115404249-chr5:115418524..115420135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177879	chromatin interactions
ENSG00000145782	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531605366	chr5:115403139-115403140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540798545	chr5:115403148-115403149	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560556958	chr5:115403157-115403158	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112792711	chr5:115403187-115403188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528179476	chr5:115403206-115403207	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184656642	chr5:115403210-115403211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs551198012	chr5:115403252-115403253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147527064	chr5:115403308-115403309	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190413290	chr5:115403341-115403342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372200127	chr5:115403355-115403356	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570699782	chr5:115403360-115403361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115747930	chr5:115403373-115403374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573234488	chr5:115403398-115403399	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375372947	chr5:115403418-115403419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139567265	chr5:115403445-115403446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs17138786	chr5:115403487-115403488	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545718172	chr5:115403518-115403519	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566594153	chr5:115403524-115403525	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs6861003	chr5:115403528-115403529	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140225935	chr5:115403531-115403532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569389184	chr5:115403557-115403558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554148569	chr5:115403589-115403590	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs6882621	chr5:115403593-115403594	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181685375	chr5:115403602-115403603	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs578184572	chr5:115403607-115403608	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115400200-115403600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:115403600-115403800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:115403600-115403800	Enhancers	Liver	Liver
4	chr5:115403600-115403800	Enhancers	Fetal Heart	heart
5	chr5:115403600-115403800	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links