Variant report

Variant	esv13552
Chromosome Location	chr5:178704380-178705192
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	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549777447	chr5:178704386-178704387	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369439602	chr5:178704387-178704388	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111712064	chr5:178704394-178704395	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199956368	chr5:178704411-178704412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543947945	chr5:178704437-178704438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546231288	chr5:178704457-178704458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548729167	chr5:178704458-178704459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79157300	chr5:178704459-178704460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78078658	chr5:178704510-178704511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80152489	chr5:178704516-178704517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71596412	chr5:178704517-178704518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71596413	chr5:178704526-178704527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71596409	chr5:178704566-178704567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188749070	chr5:178704629-178704630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78128707	chr5:178704634-178704635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529646174	chr5:178704675-178704676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182963641	chr5:178704696-178704697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200136683	chr5:178704697-178704698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182585911	chr5:178704720-178704721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186875577	chr5:178704725-178704726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531716670	chr5:178704738-178704739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550338014	chr5:178704739-178704740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566657396	chr5:178704744-178704745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376215335	chr5:178704768-178704769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200931268	chr5:178704790-178704791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192191400	chr5:178704791-178704792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185719006	chr5:178704818-178704819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71596410	chr5:178704836-178704837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111620502	chr5:178704844-178704845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184481286	chr5:178704867-178704868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538587397	chr5:178704906-178704907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538371251	chr5:178704908-178704909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188878802	chr5:178704914-178704915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568482948	chr5:178704915-178704916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533937338	chr5:178704937-178704938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554092340	chr5:178704939-178704940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577131888	chr5:178704946-178704947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191800425	chr5:178704947-178704948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556365111	chr5:178704948-178704949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576211829	chr5:178704978-178704979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375388244	chr5:178704984-178704985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs70997679	chr5:178705026-178705027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs71596411	chr5:178705027-178705028	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs568562719	chr5:178705031-178705032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs529484287	chr5:178705032-178705033	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs545171080	chr5:178705050-178705051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs183886191	chr5:178705059-178705060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs189530455	chr5:178705068-178705069	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs574427662	chr5:178705082-178705083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs71596414	chr5:178705099-178705100	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
Embryonal rhabdomyosarcoma	16790082	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
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178691000-178705000	Enhancers	NHDF-Ad	bronchial
2	chr5:178691600-178707000	Enhancers	Ovary	ovary
3	chr5:178692000-178704400	Enhancers	Placenta	Placenta
4	chr5:178692000-178711800	Weak transcription	Gastric	stomach
5	chr5:178698400-178707000	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:178699800-178707600	Enhancers	Fetal Muscle Leg	muscle
7	chr5:178700000-178704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:178700000-178705600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:178700000-178706800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:178702800-178704400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:178703000-178704400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:178703200-178704400	Enhancers	Fetal Stomach	stomach
13	chr5:178703400-178704400	Enhancers	NHLF	lung
14	chr5:178703600-178704400	Enhancers	HSMM	muscle
15	chr5:178703600-178706600	Enhancers	Osteobl	bone
16	chr5:178703800-178704400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:178703800-178706400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:178704000-178704400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr5:178704000-178704600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:178704000-178704600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:178704200-178704400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:178704200-178705200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:178704200-178705200	Weak transcription	Fetal Lung	lung
24	chr5:178704200-178705200	Weak transcription	HSMMtube	muscle
25	chr5:178704200-178705400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:178704200-178705400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:178704200-178705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:178704200-178705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:178704200-178705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:178704200-178705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:178704200-178706000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:178704200-178706000	Weak transcription	Spleen	Spleen
33	chr5:178704200-178706200	Weak transcription	Lung	lung
34	chr5:178704200-178706400	Weak transcription	Right Atrium	heart
35	chr5:178704200-178706600	Weak transcription	Fetal Intestine Small	intestine
36	chr5:178704200-178711600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:178704400-178705000	Weak transcription	NHLF	lung
38	chr5:178704400-178705200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:178704400-178705400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:178704400-178705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:178704400-178705400	Weak transcription	HSMM	muscle
42	chr5:178704400-178705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:178704400-178705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:178704400-178705600	Weak transcription	Placenta	Placenta
45	chr5:178704400-178705600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:178704400-178706000	Weak transcription	Fetal Stomach	stomach
47	chr5:178704600-178705000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:178704600-178705000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:178705000-178705400	Weak transcription	NHDF-Ad	bronchial
50	chr5:178705000-178707200	Enhancers	Muscle Satellite Cultured Cells	--

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