Variant report

Variant	esv3447545
Chromosome Location	chr5:92521496-92524994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571461054	chr5:92521507-92521508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534112174	chr5:92521525-92521526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554095350	chr5:92521536-92521537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573949183	chr5:92521564-92521565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535505895	chr5:92521566-92521567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555687885	chr5:92521576-92521577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142514565	chr5:92521599-92521600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150921529	chr5:92521623-92521624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544683259	chr5:92521680-92521681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs67565700	chr5:92521717-92521718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140787000	chr5:92521773-92521774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565253089	chr5:92521874-92521875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530865346	chr5:92521929-92521930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369280752	chr5:92521955-92521956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540392835	chr5:92522104-92522105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35142232	chr5:92522141-92522142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560433308	chr5:92522157-92522158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529542794	chr5:92522163-92522164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548708730	chr5:92522167-92522168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74527861	chr5:92522199-92522200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187032163	chr5:92522282-92522283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146737182	chr5:92522284-92522285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571504321	chr5:92522310-92522311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191730037	chr5:92522441-92522442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533995176	chr5:92522454-92522455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75804455	chr5:92522503-92522504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567571803	chr5:92522525-92522526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536507894	chr5:92522557-92522558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555519488	chr5:92522581-92522582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569231607	chr5:92522613-92522614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537983689	chr5:92522614-92522615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557845309	chr5:92522622-92522623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577687921	chr5:92522623-92522624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540429345	chr5:92522634-92522635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543267244	chr5:92522648-92522649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376504078	chr5:92522671-92522672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4869414	chr5:92522750-92522751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4869415	chr5:92522764-92522765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs376129294	chr5:92522837-92522838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543299795	chr5:92522993-92522994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181749953	chr5:92522997-92522998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77307777	chr5:92523017-92523018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529963874	chr5:92523020-92523021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544988822	chr5:92523058-92523059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542644207	chr5:92523095-92523096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186523419	chr5:92523148-92523149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564996313	chr5:92523175-92523176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368162335	chr5:92523176-92523177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372824658	chr5:92523187-92523188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547622987	chr5:92523205-92523206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92500800-92521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:92519600-92522800	Enhancers	NHDF-Ad	bronchial
3	chr5:92520600-92521600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:92521200-92522000	Enhancers	HSMM	muscle
5	chr5:92521400-92522000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:92521400-92522200	Enhancers	HMEC	breast
7	chr5:92521400-92522600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:92521400-92522800	Enhancers	Osteobl	bone
9	chr5:92521400-92523000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:92521400-92523600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:92521600-92521800	Enhancers	Fetal Kidney	kidney
12	chr5:92521600-92522000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:92521600-92522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:92521600-92522400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:92521600-92522400	Enhancers	NH-A	brain
16	chr5:92521600-92522400	Enhancers	NHEK	skin
17	chr5:92521600-92522600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:92521800-92522000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:92521800-92522200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:92521800-92522200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:92521800-92522200	Enhancers	NHLF	lung
22	chr5:92521800-92522400	Enhancers	HUVEC	blood vessel
23	chr5:92521800-92522600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:92521800-92528000	Weak transcription	Fetal Kidney	kidney
25	chr5:92522000-92524600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:92522000-92524600	Weak transcription	HSMM	muscle
27	chr5:92522000-92524800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:92522200-92524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:92522200-92524600	Weak transcription	HMEC	breast
30	chr5:92522200-92524600	Weak transcription	NHLF	lung
31	chr5:92522400-92524600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:92522400-92524600	Weak transcription	HUVEC	blood vessel
33	chr5:92522400-92524600	Weak transcription	NH-A	brain
34	chr5:92522400-92524600	Weak transcription	NHEK	skin
35	chr5:92522400-92525200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:92522600-92524800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:92522600-92525200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:92522600-92525200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:92522800-92524600	Weak transcription	Osteobl	bone
40	chr5:92522800-92525000	Weak transcription	NHDF-Ad	bronchial
41	chr5:92523000-92524800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:92523400-92530000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:92523600-92524600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:92524000-92524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:92524400-92524800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:92524600-92524800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:92524600-92526000	Bivalent Enhancer	Fetal Heart	heart
48	chr5:92524600-92526200	Enhancers	HUVEC	blood vessel
49	chr5:92524600-92527600	Enhancers	NH-A	brain
50	chr5:92524600-92528200	Enhancers	Muscle Satellite Cultured Cells	--

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