Variant report

Variant	esv2763511
Chromosome Location	chr5:151737559-151776755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75032759..75033454-chr5:151772671..151773601,2	HCT-116	colon:
2	chr5:151758495..151759365-chr5:151885022..151886235,3	MCF-7	breast:
3	chr5:151758708..151759606-chr5:151884751..151885744,6	MCF-7	breast:
4	chr5:151732642..151735217-chr5:151736155..151738969,2	K562	blood:

Extended variants
information (count: 1304 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17447016	chr5:151737559-151737560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557692390	chr5:151737656-151737657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2042205	chr5:151737704-151737705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs200376232	chr5:151737705-151737706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574136978	chr5:151737706-151737707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114401334	chr5:151737711-151737712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559017897	chr5:151737720-151737721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577258010	chr5:151737770-151737771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148436043	chr5:151737771-151737772	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs184870098	chr5:151737804-151737805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547897869	chr5:151737817-151737818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188483041	chr5:151737824-151737825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192046636	chr5:151737846-151737847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2042204	chr5:151737852-151737853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76945191	chr5:151737912-151737913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566164885	chr5:151737914-151737915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533555044	chr5:151737959-151737960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551505066	chr5:151737964-151737965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184494345	chr5:151737992-151737993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569999781	chr5:151737993-151737994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142190609	chr5:151738018-151738019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555976749	chr5:151738025-151738026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34632210	chr5:151738027-151738028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189229737	chr5:151738028-151738029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534877851	chr5:151738043-151738044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570695089	chr5:151738073-151738074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552681893	chr5:151738108-151738109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201466776	chr5:151738131-151738132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35868344	chr5:151738139-151738140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544671867	chr5:151738152-151738153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556694276	chr5:151738154-151738155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556418234	chr5:151738281-151738282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34572806	chr5:151738310-151738311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574703847	chr5:151738318-151738319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542603597	chr5:151738319-151738320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542307284	chr5:151738326-151738327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370834359	chr5:151738327-151738328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35788110	chr5:151738350-151738351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554315749	chr5:151738392-151738393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528329695	chr5:151738394-151738395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10223089	chr5:151738437-151738438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376540423	chr5:151738454-151738455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533480661	chr5:151738475-151738476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10223090	chr5:151738490-151738491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558930958	chr5:151738494-151738495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569953520	chr5:151738495-151738496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530928337	chr5:151738542-151738543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564787961	chr5:151738544-151738545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375397778	chr5:151738550-151738551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549449215	chr5:151738575-151738576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151737400-151738000	Enhancers	Fetal Heart	heart
2	chr5:151737400-151739000	Enhancers	Placenta	Placenta
3	chr5:151737800-151738000	Enhancers	Stomach Mucosa	stomach
4	chr5:151738000-151738400	Weak transcription	Fetal Heart	heart
5	chr5:151738400-151738800	Enhancers	Stomach Mucosa	stomach
6	chr5:151738400-151739200	Enhancers	Fetal Heart	heart
7	chr5:151738400-151739800	Enhancers	Fetal Stomach	stomach
8	chr5:151738600-151738800	Enhancers	Ovary	ovary
9	chr5:151738600-151739600	Enhancers	Fetal Intestine Large	intestine
10	chr5:151738600-151739800	Enhancers	Fetal Intestine Small	intestine
11	chr5:151739000-151740600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:151739200-151740200	Weak transcription	Fetal Heart	heart
13	chr5:151739800-151740000	Enhancers	Ovary	ovary
14	chr5:151740200-151740600	Enhancers	Fetal Heart	heart
15	chr5:151740600-151744400	Weak transcription	Fetal Heart	heart
16	chr5:151741400-151741800	Enhancers	Brain Hippocampus Middle	brain
17	chr5:151742000-151742400	Enhancers	Brain Anterior Caudate	brain
18	chr5:151744400-151744800	Enhancers	Fetal Heart	heart
19	chr5:151744800-151746400	Weak transcription	Fetal Heart	heart
20	chr5:151746400-151747200	Enhancers	Fetal Heart	heart
21	chr5:151746800-151747000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:151753800-151754000	Enhancers	Brain Angular Gyrus	brain
23	chr5:151753800-151754000	Enhancers	Brain Anterior Caudate	brain
24	chr5:151753800-151755000	Enhancers	Brain Substantia Nigra	brain
25	chr5:151753800-151756800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:151754000-151754400	Enhancers	Brain Hippocampus Middle	brain
27	chr5:151754400-151755600	Active TSS	Brain Hippocampus Middle	brain
28	chr5:151754600-151754800	Active TSS	Brain Cingulate Gyrus	brain
29	chr5:151754600-151755600	Active TSS	Brain Angular Gyrus	brain
30	chr5:151754600-151757200	Active TSS	Brain Anterior Caudate	brain
31	chr5:151755000-151755400	Active TSS	Brain Substantia Nigra	brain
32	chr5:151755000-151756400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:151755400-151755600	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:151755400-151756400	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr5:151755600-151755800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr5:151755600-151756200	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr5:151755600-151756200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr5:151755600-151756800	Enhancers	Ovary	ovary
39	chr5:151755600-151757800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:151755800-151756000	Enhancers	Brain Angular Gyrus	brain
41	chr5:151756000-151757000	Enhancers	Adipose Nuclei	Adipose
42	chr5:151756000-151757600	Weak transcription	Brain Angular Gyrus	brain
43	chr5:151756200-151756600	Active TSS	Brain Hippocampus Middle	brain
44	chr5:151756200-151758800	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:151756400-151759000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:151756400-151759000	Enhancers	Brain Substantia Nigra	brain
47	chr5:151756600-151756800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr5:151756800-151758200	Weak transcription	Ovary	ovary
49	chr5:151756800-151758600	Enhancers	Brain Hippocampus Middle	brain
50	chr5:151756800-151759000	Enhancers	Brain Inferior Temporal Lobe	brain

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