Variant report

Variant	esv3397915
Chromosome Location	chr5:127769203-127771301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528672734	chr5:127769259-127769260	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116472764	chr5:127769307-127769308	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562078488	chr5:127769313-127769314	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373805870	chr5:127769351-127769352	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528005135	chr5:127769355-127769356	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548067386	chr5:127769391-127769392	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs3828662	chr5:127769417-127769418	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187091999	chr5:127769428-127769429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549919013	chr5:127769549-127769550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115786969	chr5:127769550-127769551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191113903	chr5:127769567-127769568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547912646	chr5:127769678-127769679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568024162	chr5:127769693-127769694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs331081	chr5:127769712-127769713	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183425441	chr5:127769784-127769785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577165697	chr5:127769809-127769810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539647544	chr5:127769850-127769851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529477728	chr5:127769857-127769858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556365526	chr5:127769884-127769885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576625459	chr5:127769923-127769924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186641119	chr5:127769939-127769940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555527272	chr5:127769990-127769991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375312692	chr5:127770016-127770017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145654894	chr5:127770034-127770035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545757783	chr5:127770073-127770074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377404948	chr5:127770087-127770088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34645169	chr5:127770088-127770089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5871306	chr5:127770101-127770102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs70997369	chr5:127770103-127770104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7448947	chr5:127770111-127770112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs331080	chr5:127770112-127770113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112473956	chr5:127770117-127770118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs368244367	chr5:127770136-127770137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182225708	chr5:127770168-127770169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541026060	chr5:127770228-127770229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372075617	chr5:127770250-127770251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143527483	chr5:127770281-127770282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201071458	chr5:127770287-127770288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149193337	chr5:127770305-127770306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187584727	chr5:127770347-127770348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1561005	chr5:127770362-127770363	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541582357	chr5:127770366-127770367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193273358	chr5:127770387-127770388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531333450	chr5:127770427-127770428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548262854	chr5:127770468-127770469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568002372	chr5:127770562-127770563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549154652	chr5:127770598-127770599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368807290	chr5:127770601-127770602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185074588	chr5:127770625-127770626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570781625	chr5:127770630-127770631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
2	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
4	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:127747400-127772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
7	chr5:127748800-127772400	Weak transcription	NH-A	brain
8	chr5:127749800-127772400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:127751200-127772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:127754400-127772200	Weak transcription	NHEK	skin
11	chr5:127756800-127772400	Weak transcription	HMEC	breast
12	chr5:127758400-127781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:127759800-127778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:127760000-127771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:127760000-127772400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:127760200-127772800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:127760600-127783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:127763200-127776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:127763400-127771800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:127765000-127771600	Weak transcription	Fetal Heart	heart
22	chr5:127765000-127776200	Weak transcription	Fetal Stomach	stomach
23	chr5:127765000-127776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:127766600-127769800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:127768000-127770400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:127768800-127769400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:127769000-127770200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:127769200-127769600	Enhancers	Fetal Kidney	kidney
29	chr5:127769400-127770400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:127769800-127776200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:127770200-127771200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:127770400-127772400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:127771200-127771800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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