Variant report

Variant	esv2535563
Chromosome Location	chr6:13230449-13231990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115042310	chr6:13230459-13230460	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140706710	chr6:13230461-13230462	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181261370	chr6:13230475-13230476	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9369931	chr6:13230499-13230500	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114164912	chr6:13230502-13230503	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533613706	chr6:13230506-13230507	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113539938	chr6:13230510-13230511	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs137877115	chr6:13230549-13230550	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9463573	chr6:13230550-13230551	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150114680	chr6:13230622-13230623	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs185321181	chr6:13230670-13230671	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs6901091	chr6:13230686-13230687	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190526404	chr6:13230698-13230699	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570552190	chr6:13230750-13230751	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs113562086	chr6:13230761-13230762	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs66779073	chr6:13230778-13230779	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs59473759	chr6:13230797-13230798	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs530690578	chr6:13230807-13230808	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs576281779	chr6:13230858-13230859	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs539574411	chr6:13230860-13230861	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs546489543	chr6:13230926-13230927	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs369379619	chr6:13230931-13230932	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs78443122	chr6:13230936-13230937	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs58962961	chr6:13230976-13230977	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs555650730	chr6:13230989-13230990	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs572119784	chr6:13230990-13230991	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs181718142	chr6:13230994-13230995	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs12660577	chr6:13231027-13231028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs71688869	chr6:13231028-13231029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78916897	chr6:13231030-13231031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537532674	chr6:13231038-13231039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564131825	chr6:13231050-13231051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149301580	chr6:13231128-13231129	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185841045	chr6:13231133-13231134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540780026	chr6:13231226-13231227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192452547	chr6:13231228-13231229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36074569	chr6:13231229-13231230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67242910	chr6:13231230-13231231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543440794	chr6:13231242-13231243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147400416	chr6:13231247-13231248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146173181	chr6:13231248-13231249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62386661	chr6:13231249-13231250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62386662	chr6:13231251-13231252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201424900	chr6:13231262-13231263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62386664	chr6:13231263-13231264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199622652	chr6:13231272-13231273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183789623	chr6:13231273-13231274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138221523	chr6:13231276-13231277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139227059	chr6:13231304-13231305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200285253	chr6:13231308-13231309	Weak transcription Strong transcription	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	21448237	CNVD
Autism	22495311	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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13208200-13239800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:13217800-13242400	Weak transcription	Pancreas	Pancrea
3	chr6:13218200-13235000	Weak transcription	Adipose Nuclei	Adipose
4	chr6:13218400-13241000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:13218600-13234400	Weak transcription	HSMM	muscle
6	chr6:13223200-13232200	Weak transcription	Lung	lung
7	chr6:13224600-13231800	Weak transcription	Fetal Heart	heart
8	chr6:13227400-13232400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:13227800-13233200	Strong transcription	Left Ventricle	heart
10	chr6:13227800-13235600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:13227800-13238600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr6:13227800-13240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:13227800-13244000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:13228000-13236000	Weak transcription	Fetal Brain Male	brain
15	chr6:13228400-13232800	Strong transcription	Brain Germinal Matrix	brain
16	chr6:13228400-13237200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:13228600-13231000	Enhancers	Primary B cells from cord blood	blood
18	chr6:13228800-13230600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:13228800-13231200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:13229000-13230600	Flanking Active TSS	GM12878-XiMat	blood
21	chr6:13229200-13240000	Weak transcription	Fetal Lung	lung
22	chr6:13229400-13231200	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:13229400-13248200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:13229600-13233200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:13229600-13233200	Strong transcription	Aorta	Aorta
26	chr6:13229800-13230600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:13229800-13230600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:13229800-13230600	Strong transcription	Right Ventricle	heart
29	chr6:13230000-13230600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:13230000-13230600	Genic enhancers	Spleen	Spleen
31	chr6:13230000-13230800	Strong transcription	Fetal Muscle Leg	muscle
32	chr6:13230000-13231000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr6:13230000-13231200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr6:13230000-13232800	Strong transcription	Fetal Brain Female	brain
35	chr6:13230000-13233200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:13230000-13233200	Strong transcription	Brain Angular Gyrus	brain
37	chr6:13230000-13233400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:13230000-13236000	Strong transcription	Brain Anterior Caudate	brain
39	chr6:13230000-13239800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:13230200-13231200	Strong transcription	Fetal Stomach	stomach
41	chr6:13230200-13231600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:13230200-13231800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:13230200-13232800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr6:13230200-13232800	Strong transcription	Brain Hippocampus Middle	brain
45	chr6:13230200-13234200	Weak transcription	Liver	Liver
46	chr6:13230200-13235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:13230200-13242400	Weak transcription	Fetal Intestine Small	intestine
48	chr6:13230600-13231200	Enhancers	GM12878-XiMat	blood
49	chr6:13230600-13232400	Weak transcription	Right Ventricle	heart
50	chr6:13230600-13233200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links