Variant report

Variant	esv3355739
Chromosome Location	chr6:12782266-12786464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12785406..12787677-chr6:12794125..12796847,2	K562	blood:
2	chr6:12781103..12783814-chr6:12783926..12785868,2	MCF-7	breast:
3	chr6:12781103..12783814-chr6:12783926..12785868,2	MCF-7	breast:
4	chr6:12745623..12748276-chr6:12782237..12784032,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187377855	chr6:12782313-12782314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530254398	chr6:12782324-12782325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141094206	chr6:12782385-12782386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547037900	chr6:12782431-12782432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145147978	chr6:12782463-12782464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573696311	chr6:12782484-12782485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147578024	chr6:12782515-12782516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12528721	chr6:12782518-12782519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531866921	chr6:12782520-12782521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545172758	chr6:12782558-12782559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375134562	chr6:12782569-12782570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545595903	chr6:12782601-12782602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9463110	chr6:12782602-12782603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533074117	chr6:12782655-12782656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12525210	chr6:12782675-12782676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79705648	chr6:12782686-12782687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528904446	chr6:12782688-12782689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548952106	chr6:12782703-12782704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149086629	chr6:12782712-12782713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537716421	chr6:12782755-12782756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538088176	chr6:12782916-12782917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112080594	chr6:12782933-12782934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566596856	chr6:12782945-12782946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553841394	chr6:12782948-12782949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7760140	chr6:12782968-12782969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143130301	chr6:12783002-12783003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116105404	chr6:12783024-12783025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576705284	chr6:12783025-12783026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191078818	chr6:12783036-12783037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180689627	chr6:12783098-12783099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565518985	chr6:12783124-12783125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527877776	chr6:12783147-12783148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185408708	chr6:12783156-12783157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541596155	chr6:12783170-12783171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190120147	chr6:12783217-12783218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528968280	chr6:12783221-12783222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549015304	chr6:12783262-12783263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183138681	chr6:12783300-12783301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188575822	chr6:12783354-12783355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554725988	chr6:12783391-12783392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531663093	chr6:12783449-12783450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540035196	chr6:12783451-12783452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571462042	chr6:12783458-12783459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533749108	chr6:12783464-12783465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117339439	chr6:12783497-12783498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567445535	chr6:12783529-12783530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536328381	chr6:12783563-12783564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556545998	chr6:12783589-12783590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576354239	chr6:12783593-12783594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545722438	chr6:12783627-12783628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
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	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
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
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12781200-12787800	Weak transcription	Fetal Brain Male	brain
2	chr6:12781600-12782400	Enhancers	Placenta	Placenta
3	chr6:12781800-12782400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:12782400-12785000	Weak transcription	Placenta	Placenta
5	chr6:12782400-12787800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:12783400-12783800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:12785000-12785600	Enhancers	Placenta	Placenta
8	chr6:12785600-12786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:12785600-12787600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:12785600-12787800	Weak transcription	Placenta	Placenta
11	chr6:12786000-12790800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links