Variant report

Variant	esv2464602
Chromosome Location	chr6:15540826-15542258
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	chr6:15540041..15541969-chr6:15549123..15551420,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76537509	chr6:15540864-15540865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4715981	chr6:15540919-15540920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535252415	chr6:15540922-15540923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541007690	chr6:15540925-15540926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547979844	chr6:15540933-15540934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568204653	chr6:15540934-15540935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183001675	chr6:15540997-15540998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556951106	chr6:15540998-15540999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572429700	chr6:15541012-15541013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10456200	chr6:15541024-15541025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539320201	chr6:15541063-15541064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555064411	chr6:15541090-15541091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9476839	chr6:15541094-15541095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572930083	chr6:15541116-15541117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553433200	chr6:15541136-15541137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543613936	chr6:15541140-15541141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565199230	chr6:15541148-15541149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142793079	chr6:15541242-15541243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563145931	chr6:15541327-15541328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543511860	chr6:15541345-15541346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201823390	chr6:15541360-15541361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563311724	chr6:15541420-15541421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532382928	chr6:15541428-15541429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566933898	chr6:15541438-15541439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187611689	chr6:15541456-15541457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560043785	chr6:15541528-15541529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532010013	chr6:15541530-15541531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377619543	chr6:15541538-15541539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528671715	chr6:15541555-15541556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192573896	chr6:15541556-15541557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568675019	chr6:15541570-15541571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530593479	chr6:15541580-15541581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs202215725	chr6:15541603-15541604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182735766	chr6:15541648-15541649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570446703	chr6:15541655-15541656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539446837	chr6:15541686-15541687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552988766	chr6:15541693-15541694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201054973	chr6:15541711-15541712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539078867	chr6:15541741-15541742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187067328	chr6:15541778-15541779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192278174	chr6:15541801-15541802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184474200	chr6:15541825-15541826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190800930	chr6:15541847-15541848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150331786	chr6:15541849-15541850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557064571	chr6:15541871-15541872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144889718	chr6:15541914-15541915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149042970	chr6:15541930-15541931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116046144	chr6:15541938-15541939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528738338	chr6:15541973-15541974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542562595	chr6:15541974-15541975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
Pancreatic cancer	17952125	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
Schizophrenia	22423091	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15524400-15549400	Weak transcription	Hela-S3	cervix
2	chr6:15524800-15549800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr6:15525000-15553400	Weak transcription	Ovary	ovary
4	chr6:15527200-15541400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:15528400-15547400	Weak transcription	Fetal Kidney	kidney
6	chr6:15528600-15543600	Weak transcription	GM12878-XiMat	blood
7	chr6:15528600-15546800	Weak transcription	Fetal Lung	lung
8	chr6:15529000-15541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:15529400-15549800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:15531800-15545800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:15532600-15549800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:15532800-15542000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:15532800-15544200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:15533600-15551000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:15533800-15542400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:15534000-15544000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:15534000-15551600	Weak transcription	Aorta	Aorta
18	chr6:15534400-15544000	Weak transcription	Primary T cells from cord blood	blood
19	chr6:15534400-15544600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:15534400-15551000	Weak transcription	K562	blood
21	chr6:15534400-15609800	Weak transcription	Thymus	Thymus
22	chr6:15535800-15543400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:15536000-15544000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:15536800-15541200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:15537000-15544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:15537000-15549800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:15537000-15550000	Weak transcription	Psoas Muscle	Psoas
28	chr6:15537000-15551000	Weak transcription	Left Ventricle	heart
29	chr6:15537000-15551600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:15537000-15551800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:15537000-15554400	Weak transcription	Fetal Intestine Large	intestine
32	chr6:15537200-15546000	Weak transcription	Right Atrium	heart
33	chr6:15537400-15544000	Weak transcription	Fetal Intestine Small	intestine
34	chr6:15537400-15546000	Weak transcription	Fetal Stomach	stomach
35	chr6:15538600-15544400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:15538800-15543600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:15539600-15546000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:15539800-15541000	Enhancers	Primary B cells from cord blood	blood
39	chr6:15539800-15541800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:15539800-15554000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:15540000-15541400	Weak transcription	Brain Substantia Nigra	brain
42	chr6:15540000-15546000	Weak transcription	Lung	lung
43	chr6:15540000-15550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:15540000-15551800	Weak transcription	Gastric	stomach
45	chr6:15540200-15546800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:15540200-15551000	Weak transcription	Pancreas	Pancrea
47	chr6:15540400-15543400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:15540600-15541000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr6:15540600-15541000	Weak transcription	Brain Anterior Caudate	brain
50	chr6:15540600-15541600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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