Variant report

Variant	esv2559107
Chromosome Location	chr6:55906754-55908770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552213584	chr6:55906775-55906776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542133280	chr6:55906798-55906799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7751104	chr6:55906799-55906800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572310957	chr6:55906820-55906821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182851018	chr6:55906928-55906929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2745749	chr6:55906935-55906936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533310086	chr6:55906977-55906978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7755079	chr6:55906978-55906979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7775091	chr6:55906982-55906983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150229557	chr6:55906987-55906988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549319716	chr6:55907087-55907088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7754819	chr6:55907089-55907090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577803489	chr6:55907111-55907112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189938155	chr6:55907138-55907139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138801508	chr6:55907212-55907213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182889014	chr6:55907241-55907242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112975145	chr6:55907260-55907261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536780091	chr6:55907302-55907303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76863732	chr6:55907384-55907385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573578153	chr6:55907415-55907416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62406119	chr6:55907423-55907424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560634793	chr6:55907428-55907429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9464334	chr6:55907438-55907439	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572450017	chr6:55907472-55907473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541320952	chr6:55907498-55907499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187270836	chr6:55907499-55907500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62406120	chr6:55907509-55907510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34722415	chr6:55907515-55907516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12216413	chr6:55907529-55907530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563773639	chr6:55907566-55907567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529306672	chr6:55907623-55907624	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543002875	chr6:55907686-55907687	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559772993	chr6:55907736-55907737	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528424052	chr6:55907779-55907780	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144668502	chr6:55907834-55907835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7756577	chr6:55907835-55907836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138257730	chr6:55907844-55907845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550410104	chr6:55907882-55907883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545212648	chr6:55907975-55907976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556013403	chr6:55908038-55908039	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192558664	chr6:55908066-55908067	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565109840	chr6:55908128-55908129	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551716192	chr6:55908162-55908163	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566106790	chr6:55908167-55908168	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535016003	chr6:55908183-55908184	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184818440	chr6:55908201-55908202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578124937	chr6:55908316-55908317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188964080	chr6:55908350-55908351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557182270	chr6:55908453-55908454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192509551	chr6:55908460-55908461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55899200-55920400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:55905800-55911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:55906200-55908000	Weak transcription	HSMM	muscle
4	chr6:55906200-55908400	Weak transcription	NHDF-Ad	bronchial
5	chr6:55906200-55910800	Weak transcription	HSMMtube	muscle
6	chr6:55906400-55907400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:55906400-55907800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:55906400-55907800	Weak transcription	Osteobl	bone
9	chr6:55907200-55907400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:55907400-55907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:55907400-55908200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:55907600-55907800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:55907800-55908000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:55907800-55908000	Enhancers	Osteobl	bone
15	chr6:55907800-55909200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:55907800-55909200	Enhancers	HUVEC	blood vessel
17	chr6:55908000-55908200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:55908000-55908400	Weak transcription	Osteobl	bone
19	chr6:55908000-55909400	Enhancers	HSMM	muscle
20	chr6:55908200-55909000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:55908200-55910400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:55908400-55908600	Enhancers	NHDF-Ad	bronchial
23	chr6:55908400-55908600	Enhancers	Osteobl	bone
24	chr6:55908600-55910800	Weak transcription	Osteobl	bone

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