Variant report

Variant	esv3386781
Chromosome Location	chr5:75998046-76000044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75997956..76000044-chr5:76012205..76013755,2	K562	blood:
2	chr5:75999626..76001193-chr5:76002923..76004547,2	K562	blood:
3	chr5:75994843..75996595-chr5:75999290..76000905,2	K562	blood:
4	chr5:75997963..75999602-chr5:76001084..76003295,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373761527	chr5:75998049-75998050	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs138560214	chr5:75998053-75998054	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs2307122	chr5:75998096-75998097	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528417782	chr5:75998117-75998118	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs114417222	chr5:75998143-75998144	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs564881218	chr5:75998177-75998178	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs530577495	chr5:75998180-75998181	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34954	chr5:75998201-75998202	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368611155	chr5:75998258-75998259	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs371698173	chr5:75998265-75998266	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115903872	chr5:75998280-75998281	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs376268244	chr5:75998281-75998282	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs141420081	chr5:75998324-75998325	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs368828240	chr5:75998335-75998336	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs547415830	chr5:75998348-75998349	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs536482916	chr5:75998359-75998360	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs371330018	chr5:75998366-75998367	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs546870034	chr5:75998368-75998369	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs368752328	chr5:75998371-75998372	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs150409607	chr5:75998391-75998392	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs201571668	chr5:75998393-75998394	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs145165340	chr5:75998397-75998398	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs375336707	chr5:75998403-75998404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201167699	chr5:75998408-75998409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538964606	chr5:75998415-75998416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558483198	chr5:75998447-75998448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369888081	chr5:75998458-75998459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3816909	chr5:75998488-75998489	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536374812	chr5:75998516-75998517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145804823	chr5:75998542-75998543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10942790	chr5:75998602-75998603	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554806571	chr5:75998618-75998619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34100308	chr5:75998629-75998630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398064919	chr5:75998633-75998634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573757748	chr5:75998650-75998651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570187030	chr5:75998664-75998665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10942791	chr5:75998806-75998807	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12054930	chr5:75998864-75998865	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573134348	chr5:75998881-75998882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545323194	chr5:75998934-75998935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13172584	chr5:75998965-75998966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564869065	chr5:75998973-75998974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13168800	chr5:75998979-75998980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113446098	chr5:75998986-75998987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs70982629	chr5:75998990-75998991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71667731	chr5:75998991-75998992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575964673	chr5:75999020-75999021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550637592	chr5:75999061-75999062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560849874	chr5:75999106-75999107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529821152	chr5:75999121-75999122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:75950800-75999400	Weak transcription	Ovary	ovary
5	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:75969800-75999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:75975600-75999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:75978400-76001600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:75980800-76000200	Strong transcription	Primary hematopoietic stem cells	blood
14	chr5:75981200-76001600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:75986600-76000000	Strong transcription	Primary B cells from cord blood	blood
17	chr5:75987600-76001200	Weak transcription	Small Intestine	intestine
18	chr5:75987800-76001400	Weak transcription	Fetal Lung	lung
19	chr5:75988000-75999200	Weak transcription	Stomach Mucosa	stomach
20	chr5:75988200-75999400	Strong transcription	Placenta	Placenta
21	chr5:75988200-75999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:75988400-75998600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:75988400-76004600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:75988600-76001800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:75988800-75999000	Weak transcription	Fetal Kidney	kidney
27	chr5:75988800-76006600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:75988800-76011000	Weak transcription	Lung	lung
29	chr5:75989200-76000000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
31	chr5:75990600-75999600	Weak transcription	Adipose Nuclei	Adipose
32	chr5:75990800-75999600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:75991000-76000800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:75991600-76005800	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:75992800-76000400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:75993000-75999600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:75993000-76000200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:75993000-76000400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:75993200-75998400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:75993200-76000400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:75993400-76001400	Strong transcription	Primary T cells from cord blood	blood
43	chr5:75993800-76001600	Weak transcription	K562	blood
44	chr5:75993800-76004200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:75994200-76006400	Weak transcription	GM12878-XiMat	blood
46	chr5:75994400-75998800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:75994400-75999800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:75995800-76004000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:75996000-75998600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:75996600-75998200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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