Variant report

Variant	esv3395307
Chromosome Location	chr6:49377043-49378191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:47755455..47756447-chr6:49377283..49378274,5	MCF-7	breast:
2	chr6:49165091..49165837-chr6:49377428..49378325,3	MCF-7	breast:
3	chr21:34695232..34695732-chr6:49377392..49378061,2	MCF-7	breast:
4	chr6:49375571..49377870-chr6:49396381..49398222,2	K562	blood:
5	chr6:47755532..47756182-chr6:49377929..49378443,2	MCF-7	breast:
6	chr6:47755527..47756484-chr6:49377353..49378308,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188893937	chr6:49377052-49377053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9473547	chr6:49377094-49377095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192101186	chr6:49377192-49377193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554891046	chr6:49377205-49377206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374623906	chr6:49377213-49377214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34972586	chr6:49377240-49377241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573204577	chr6:49377303-49377304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540388510	chr6:49377312-49377313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183577185	chr6:49377339-49377340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532612545	chr6:49377395-49377396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201498778	chr6:49377404-49377405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543459805	chr6:49377434-49377435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201323900	chr6:49377452-49377453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188512367	chr6:49377505-49377506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562887052	chr6:49377527-49377528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530161185	chr6:49377587-49377588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67620692	chr6:49377654-49377655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs67497669	chr6:49377655-49377656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141829858	chr6:49377665-49377666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398065786	chr6:49377666-49377667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201092395	chr6:49377669-49377670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534438570	chr6:49377687-49377688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145909467	chr6:49377741-49377742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541027910	chr6:49377768-49377769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566729982	chr6:49377772-49377773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527597671	chr6:49377795-49377796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554636230	chr6:49377798-49377799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2501980	chr6:49377819-49377820	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs12525035	chr6:49377987-49377988	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543641486	chr6:49378126-49378127	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs192213327	chr6:49378130-49378131	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs537929685	chr6:49378136-49378137	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184048588	chr6:49378137-49378138	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567715764	chr6:49378142-49378143	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138824581	chr6:49378144-49378145	Flanking Active TSS Enhancers Active TSS	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49374600-49377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49374600-49377800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:49374600-49377800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:49374600-49378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:49377600-49377800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:49377600-49377800	Enhancers	Osteobl	bone
7	chr6:49377800-49378000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:49377800-49378200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:49377800-49378200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:49377800-49378200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:49377800-49378200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:49377800-49378200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:49377800-49378200	Enhancers	Brain Hippocampus Middle	brain
14	chr6:49377800-49378200	Enhancers	Colon Smooth Muscle	Colon
15	chr6:49377800-49378200	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:49377800-49378200	Active TSS	A549	lung
17	chr6:49377800-49378200	Flanking Active TSS	HMEC	breast
18	chr6:49377800-49378400	Enhancers	NHEK	skin
19	chr6:49377800-49378400	Flanking Active TSS	Osteobl	bone
20	chr6:49377800-49378600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:49378000-49378200	Enhancers	NHDF-Ad	bronchial
22	chr6:49378000-49378400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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