Variant report

Variant	esv2653334
Chromosome Location	chr6:15983662-15985374
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15984580..15986448-chr6:15986489..15989172,2	K562	blood:
2	chr6:15974189..15975999-chr6:15983759..15985809,2	K562	blood:
3	chr6:15984876..15986448-chr6:15986489..15989397,2	K562	blood:
4	chr6:15983552..15985783-chr6:16001742..16003569,2	K562	blood:
5	chr6:15980977..15982793-chr6:15984089..15986958,2	K562	blood:
6	chr6:15977799..15980504-chr6:15983512..15985056,2	K562	blood:
7	chr6:15984163..15986558-chr6:16129136..16130861,2	K562	blood:
8	chr6:15980977..15983106-chr6:15984089..15987609,3	K562	blood:
9	chr6:15985140..15989289-chr6:16126563..16131391,7	K562	blood:
10	chr6:15905196..15908263-chr6:15984889..15987796,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000007944	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115513677	chr6:15983669-15983670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76121940	chr6:15983672-15983673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6901817	chr6:15983679-15983680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539661589	chr6:15983687-15983688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149044704	chr6:15983727-15983728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80063519	chr6:15983799-15983800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143028826	chr6:15983808-15983809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528817550	chr6:15983856-15983857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148262003	chr6:15983869-15983870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568784116	chr6:15983884-15983885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538059168	chr6:15983914-15983915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560043586	chr6:15983956-15983957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570950273	chr6:15983972-15983973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539546784	chr6:15983973-15983974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114993022	chr6:15983990-15983991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573285778	chr6:15983997-15983998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552591063	chr6:15984013-15984014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114094958	chr6:15984043-15984044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71554550	chr6:15984057-15984058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs62388493	chr6:15984075-15984076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113849234	chr6:15984100-15984101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368996114	chr6:15984102-15984103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373001630	chr6:15984106-15984107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202159525	chr6:15984129-15984130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55946336	chr6:15984131-15984132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55857731	chr6:15984140-15984141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76093045	chr6:15984150-15984151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79552964	chr6:15984160-15984161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62388494	chr6:15984214-15984215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56080041	chr6:15984235-15984236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370883510	chr6:15984312-15984313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62388495	chr6:15984339-15984340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377617853	chr6:15984393-15984394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71533657	chr6:15984420-15984421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs71533658	chr6:15984447-15984448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35302110	chr6:15984474-15984475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367884446	chr6:15984555-15984556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373016310	chr6:15984588-15984589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74782417	chr6:15984601-15984602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111631194	chr6:15984610-15984611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548535884	chr6:15984614-15984615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141773447	chr6:15984615-15984616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138056061	chr6:15984628-15984629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76997055	chr6:15984664-15984665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117851169	chr6:15984667-15984668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62388497	chr6:15984674-15984675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200406224	chr6:15984706-15984707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34597266	chr6:15984742-15984743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551596345	chr6:15984745-15984746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571342518	chr6:15984785-15984786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15978000-15986400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:15978800-15986200	Weak transcription	K562	blood
3	chr6:15981400-15986200	Weak transcription	Esophagus	oesophagus
4	chr6:15985200-15985800	Enhancers	HUES64 Cell Line	embryonic stem cell

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