Variant report

Variant	esv3500421
Chromosome Location	chr6:150302530-150302891
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	chr6:150284633..150286878-chr6:150301726..150303753,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ULBP1-1	chr6:150302737-150304344	l_3296_chr6:150302250-150304344_testes

Variant related genes	Relation type
ENSG00000111981	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397887674	chr6:150302535-150302536	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs62441839	chr6:150302563-150302564	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs34275716	chr6:150302581-150302582	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35409210	chr6:150302584-150302585	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558702821	chr6:150302602-150302603	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532408974	chr6:150302613-150302614	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552578163	chr6:150302640-150302641	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566370848	chr6:150302664-150302665	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182446002	chr6:150302668-150302669	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535370105	chr6:150302685-150302686	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185833441	chr6:150302732-150302733	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568687359	chr6:150302780-150302781	Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs371384545	chr6:150302804-150302805	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs537117953	chr6:150302805-150302806	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs62441840	chr6:150302820-150302821	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117375030	chr6:150302880-150302881	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs545473913	chr6:150302889-150302890	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs60901916	chr6:150302890-150302891	Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150302400-150303000	Active TSS	Hela-S3	cervix
2	chr6:150302800-150303000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr6:150302800-150303000	Bivalent Enhancer	Fetal Thymus	thymus

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