Variant report

Variant	esv2761059
Chromosome Location	chr6:2355313-2355806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2119577..2122402-chr6:2352666..2355381,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9688371	chr6:2355313-2355314	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs386696125	chr6:2355318-2355319	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34906568	chr6:2355320-2355321	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs59292431	chr6:2355322-2355323	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs58112041	chr6:2355338-2355339	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140485138	chr6:2355339-2355340	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376867502	chr6:2355353-2355354	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572497172	chr6:2355370-2355371	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2505676	chr6:2355375-2355376	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs557902901	chr6:2355376-2355377	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76661626	chr6:2355396-2355397	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201112374	chr6:2355428-2355429	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555797854	chr6:2355434-2355435	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566121938	chr6:2355450-2355451	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535028847	chr6:2355452-2355453	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562406824	chr6:2355522-2355523	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186866585	chr6:2355527-2355528	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73342792	chr6:2355535-2355536	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557166638	chr6:2355584-2355585	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144540201	chr6:2355613-2355614	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539539964	chr6:2355649-2355650	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558913701	chr6:2355656-2355657	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371163683	chr6:2355661-2355662	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561916919	chr6:2355664-2355665	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs2505675	chr6:2355675-2355676	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
26	rs544991453	chr6:2355692-2355693	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532614970	chr6:2355727-2355728	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564797141	chr6:2355743-2355744	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2479011	chr6:2355749-2355750	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs74653118	chr6:2355788-2355789	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2505674	chr6:2355806-2355807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2339200-2370000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:2344400-2377400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:2345400-2365800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:2347000-2362800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:2349400-2362000	Weak transcription	Spleen	Spleen
6	chr6:2350000-2356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:2352000-2362400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:2352400-2355800	Enhancers	Osteobl	bone
9	chr6:2352400-2376400	Weak transcription	HSMMtube	muscle
10	chr6:2352800-2356400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:2352800-2360200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:2353800-2376400	Weak transcription	Pancreas	Pancrea
13	chr6:2354200-2356200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:2354200-2356200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:2354200-2360000	Weak transcription	Fetal Intestine Small	intestine
16	chr6:2354200-2360200	Weak transcription	Fetal Stomach	stomach
17	chr6:2354200-2360400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:2354200-2360800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:2354200-2362200	Weak transcription	Ovary	ovary
20	chr6:2354200-2363200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:2354200-2363200	Weak transcription	Adipose Nuclei	Adipose
22	chr6:2354200-2366800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:2354200-2367200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:2354200-2371600	Weak transcription	Right Ventricle	heart
25	chr6:2354200-2376400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:2354400-2361000	Weak transcription	Fetal Intestine Large	intestine
27	chr6:2354600-2355800	Enhancers	Fetal Lung	lung
28	chr6:2354600-2361800	Weak transcription	Liver	Liver
29	chr6:2354800-2355800	Active TSS	Aorta	Aorta
30	chr6:2355000-2356000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:2355800-2356200	Enhancers	Aorta	Aorta

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