Variant report

Variant	nsv980746
Chromosome Location	chr5:151229707-151230207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:182360867..182362429-chr5:151226919..151229896,2	K562	blood:
2	chr1:182360601..182362507-chr5:151228399..151229900,2	K562	blood:
3	chr1:182359822..182362122-chr5:151226896..151229921,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135821	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529611199	chr5:151229710-151229711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552478195	chr5:151229724-151229725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186214774	chr5:151229764-151229765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368205781	chr5:151229787-151229788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566504931	chr5:151229802-151229803	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12108921	chr5:151229811-151229812	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs573746521	chr5:151229826-151229827	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140962659	chr5:151229832-151229833	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548782321	chr5:151229916-151229917	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538055329	chr5:151229978-151229979	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560680421	chr5:151230038-151230039	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75465323	chr5:151230090-151230091	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386693662	chr5:151230091-151230092	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144922743	chr5:151230092-151230093	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112509190	chr5:151230093-151230094	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145868530	chr5:151230189-151230190	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190930684	chr5:151230190-151230191	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576988233	chr5:151230193-151230194	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544421445	chr5:151230194-151230195	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151219400-151229800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151229800-151231200	Strong transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:151230000-151230200	Enhancers	Aorta	Aorta
4	chr5:151230200-151231000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links