Variant report

Variant	esv3398099
Chromosome Location	chr5:154148635-154149085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:154141399..154144040-chr5:154148555..154150698,2	MCF-7	breast:
2	chr5:154133078..154137845-chr5:154142563..154149366,9	MCF-7	breast:
3	chr5:154132476..154143251-chr5:154145354..154162500,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155506	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377028502	chr5:154148650-154148651	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559292901	chr5:154148656-154148657	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181501619	chr5:154148661-154148662	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565669041	chr5:154148668-154148669	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76293020	chr5:154148705-154148706	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116625825	chr5:154148731-154148732	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78395877	chr5:154148760-154148761	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567405369	chr5:154148786-154148787	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2103073	chr5:154148804-154148805	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs546722266	chr5:154148823-154148824	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566835076	chr5:154148826-154148827	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186925070	chr5:154148857-154148858	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7716019	chr5:154148862-154148863	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77162796	chr5:154148870-154148871	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538395804	chr5:154148874-154148875	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555312462	chr5:154148920-154148921	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575071623	chr5:154148929-154148930	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530122188	chr5:154148966-154148967	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540919033	chr5:154149021-154149022	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552725043	chr5:154149031-154149032	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78924036	chr5:154149065-154149066	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	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
Acute lymphoblastic leukemia	22237106	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
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154138200-154151400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr5:154138200-154156000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr5:154138800-154150000	Weak transcription	HSMM	muscle
4	chr5:154139000-154149800	Weak transcription	NHLF	lung
5	chr5:154139800-154148800	Weak transcription	Fetal Brain Male	brain
6	chr5:154140200-154149200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:154141000-154150000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:154141200-154148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:154141200-154150600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:154141200-154151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:154141400-154148800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:154141400-154148800	Weak transcription	Colonic Mucosa	Colon
13	chr5:154141400-154152200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:154142200-154148800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:154142200-154148800	Weak transcription	Aorta	Aorta
16	chr5:154142400-154148800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:154142600-154148800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:154142600-154149000	Weak transcription	Hela-S3	cervix
19	chr5:154142800-154148800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:154143200-154150600	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:154143600-154149200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:154144400-154149000	Enhancers	Fetal Thymus	thymus
23	chr5:154144400-154151800	Genic enhancers	K562	blood
24	chr5:154144600-154150200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:154144600-154150800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:154144600-154151600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:154144600-154151600	Enhancers	Brain Anterior Caudate	brain
28	chr5:154144600-154151600	Enhancers	Left Ventricle	heart
29	chr5:154144600-154157200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr5:154144800-154150200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:154144800-154150400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:154144800-154150800	Enhancers	Primary B cells from cord blood	blood
33	chr5:154145000-154150200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:154145000-154150600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:154145400-154151600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:154145800-154150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:154146000-154149200	Weak transcription	Fetal Kidney	kidney
38	chr5:154146400-154148800	Weak transcription	HMEC	breast
39	chr5:154146600-154153800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:154146800-154149400	Weak transcription	Placenta	Placenta
41	chr5:154147000-154148800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:154147000-154148800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:154147200-154148800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:154147200-154148800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:154147200-154148800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:154147400-154148800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:154147400-154149400	Weak transcription	Fetal Lung	lung
48	chr5:154147400-154150200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr5:154147400-154161800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:154147600-154148800	Weak transcription	H9 Cell Line	embryonic stem cell

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