Variant report

Variant	nsv517574
Chromosome Location	chr6:5560241-5560766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5554838..5557346-chr6:5557615..5560510,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7765654	chr6:5560241-5560242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573599858	chr6:5560269-5560270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144670804	chr6:5560299-5560300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551457287	chr6:5560341-5560342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183714476	chr6:5560375-5560376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7746240	chr6:5560391-5560392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555517774	chr6:5560405-5560406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7745266	chr6:5560434-5560435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538134581	chr6:5560484-5560485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7746509	chr6:5560506-5560507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs577568890	chr6:5560512-5560513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545107430	chr6:5560532-5560533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371918111	chr6:5560541-5560542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147905450	chr6:5560549-5560550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9405849	chr6:5560560-5560561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561515324	chr6:5560612-5560613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188380810	chr6:5560685-5560686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140427557	chr6:5560689-5560690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140615598	chr6:5560726-5560727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367670620	chr6:5560729-5560730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2326646	chr6:5560766-5560767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5511400-5568200	Weak transcription	Aorta	Aorta
2	chr6:5538000-5573600	Weak transcription	Left Ventricle	heart
3	chr6:5550800-5563400	Weak transcription	Pancreas	Pancrea
4	chr6:5550800-5564600	Weak transcription	Dnd41	blood
5	chr6:5551000-5566000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:5551000-5566200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:5551600-5575200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:5552400-5564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:5553200-5567800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:5555000-5564600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:5555200-5563400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:5555600-5563400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:5557800-5563400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:5560200-5560400	Weak transcription	Spleen	Spleen

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