Variant report

Variant	esv2762590
Chromosome Location	chr6:49286305-49295370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 328 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555933	chr6:49286305-49286306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372073997	chr6:49286315-49286316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556046	chr6:49286340-49286341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs75169746	chr6:49286371-49286372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567140707	chr6:49286372-49286373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186669430	chr6:49286398-49286399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147801983	chr6:49286430-49286431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558669	chr6:49286612-49286613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369239919	chr6:49286707-49286708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192020821	chr6:49286748-49286749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576583470	chr6:49286751-49286752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182948539	chr6:49286770-49286771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562252819	chr6:49286831-49286832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560700	chr6:49286871-49286872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186911762	chr6:49286891-49286892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559334670	chr6:49286894-49286895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190126104	chr6:49286947-49286948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182077623	chr6:49286994-49286995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368102302	chr6:49287044-49287045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569709329	chr6:49287057-49287058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148839666	chr6:49287058-49287059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548800410	chr6:49287085-49287086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs473800	chr6:49287096-49287097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534585175	chr6:49287103-49287104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143551420	chr6:49287114-49287115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115023462	chr6:49287115-49287116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540668553	chr6:49287129-49287130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188021958	chr6:49287245-49287246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552379619	chr6:49287264-49287265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193091390	chr6:49287290-49287291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185788542	chr6:49287318-49287319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116426703	chr6:49287339-49287340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12189573	chr6:49287351-49287352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs562969277	chr6:49287384-49287385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531960765	chr6:49287448-49287449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200947881	chr6:49287455-49287456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369791314	chr6:49287464-49287465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11755646	chr6:49287508-49287509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs505273	chr6:49287571-49287572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377328347	chr6:49287572-49287573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544964590	chr6:49287596-49287597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150995353	chr6:49287662-49287663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188303557	chr6:49287679-49287680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs479383	chr6:49287716-49287717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs560942028	chr6:49287770-49287771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192016693	chr6:49287820-49287821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546722069	chr6:49287831-49287832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571223493	chr6:49287889-49287890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538673468	chr6:49287894-49287895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538679527	chr6:49287950-49287951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49285000-49293600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49286800-49288400	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:49287000-49287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:49288400-49293800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:49289400-49290200	Enhancers	Fetal Lung	lung
6	chr6:49290200-49293600	Weak transcription	Fetal Lung	lung
7	chr6:49292600-49293600	Enhancers	HUVEC	blood vessel
8	chr6:49293000-49293800	Enhancers	NHEK	skin
9	chr6:49293200-49295400	Enhancers	HMEC	breast
10	chr6:49293400-49293800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:49293400-49293800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:49293400-49294400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:49293400-49294600	Enhancers	Osteobl	bone
14	chr6:49293400-49295200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:49293400-49295200	Enhancers	Hela-S3	cervix
16	chr6:49293600-49293800	Enhancers	NHDF-Ad	bronchial
17	chr6:49293600-49294000	Flanking Active TSS	HUVEC	blood vessel
18	chr6:49293600-49294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:49293600-49295400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:49293600-49295400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:49293600-49295800	Enhancers	HSMM	muscle
22	chr6:49293600-49296200	Enhancers	Fetal Lung	lung
23	chr6:49293800-49294000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:49293800-49294000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:49293800-49294000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:49293800-49294000	Flanking Active TSS	NHEK	skin
27	chr6:49293800-49294200	Enhancers	Adipose Nuclei	Adipose
28	chr6:49293800-49294200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:49293800-49294200	Active TSS	Fetal Brain Male	brain
30	chr6:49293800-49294200	Enhancers	Fetal Kidney	kidney
31	chr6:49293800-49294200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:49293800-49294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:49293800-49294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:49293800-49295200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:49293800-49295200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:49293800-49295400	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:49293800-49295400	Enhancers	NH-A	brain
38	chr6:49293800-49295600	Enhancers	NHLF	lung
39	chr6:49294000-49294200	Enhancers	Stomach Smooth Muscle	stomach
40	chr6:49294000-49294400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:49294000-49294800	Enhancers	Colon Smooth Muscle	Colon
42	chr6:49294000-49295000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:49294000-49295200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:49294000-49295800	Enhancers	NHEK	skin
45	chr6:49294000-49296200	Enhancers	HUVEC	blood vessel
46	chr6:49294200-49294800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr6:49294200-49295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:49294200-49295200	Weak transcription	Adipose Nuclei	Adipose
49	chr6:49294200-49295600	Weak transcription	Fetal Brain Male	brain
50	chr6:49294200-49295800	Enhancers	NHDF-Ad	bronchial

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