Variant report

Variant	nsv882850
Chromosome Location	chr5:128460963-128529794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
2	chr5:128240890..128241833-chr5:128471115..128471772,2	MCF-7	breast:
3	chr5:128449513..128450059-chr5:128471026..128471569,2	K562	blood:
4	chr5:128507985..128508908-chr5:128606817..128607642,7	MCF-7	breast:
5	chr5:128432223..128435178-chr5:128464639..128468314,3	MCF-7	breast:
6	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
7	chr5:128513076..128513989-chr5:128577110..128577990,3	MCF-7	breast:
8	chr5:128461144..128463118-chr5:128795505..128797060,2	MCF-7	breast:
9	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
10	chr5:128508358..128508876-chr5:128606713..128607484,2	MCF-7	breast:
11	chr5:128498612..128501498-chr5:128507388..128509963,2	MCF-7	breast:
12	chr5:128335262..128337541-chr5:128469535..128471381,2	K562	blood:
13	chr5:128465342..128468762-chr5:128469203..128471352,3	K562	blood:
14	chr5:128507699..128508883-chr5:129103268..129104196,8	MCF-7	breast:
15	chr5:128513050..128513852-chr5:128577188..128577981,3	MCF-7	breast:
16	chr5:128470876..128472594-chr5:128472847..128476147,3	K562	blood:
17	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:
18	chr5:128433949..128434874-chr5:128513202..128513912,2	MCF-7	breast:
19	chr5:128513155..128513936-chr5:128690914..128691572,4	MCF-7	breast:
20	chr5:128508355..128508997-chr5:129103364..129104146,2	MCF-7	breast:
21	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:
22	chr5:128240845..128241883-chr5:128470886..128471556,3	MCF-7	breast:
23	chr5:128429996..128432872-chr5:128469702..128471775,4	MCF-7	breast:
24	chr5:128241087..128241855-chr5:128471030..128471838,2	K562	blood:
25	chr5:128506836..128515657-chr5:128794650..128798569,12	MCF-7	breast:
26	chr5:128526647..128529210-chr5:128796406..128798756,3	MCF-7	breast:
27	chr5:128451572..128454294-chr5:128458058..128461292,3	K562	blood:
28	chr5:128453538..128456511-chr5:128465200..128466831,2	MCF-7	breast:
29	chr5:128512997..128515726-chr5:128602671..128605441,2	MCF-7	breast:
30	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
31	chr5:128514742..128517177-chr5:128522195..128524803,2	MCF-7	breast:
32	chr5:128464646..128465365-chr5:128512968..128513960,3	MCF-7	breast:
33	chr5:128471130..128472804-chr5:128479720..128482426,2	MCF-7	breast:
34	chr5:128464646..128465258-chr5:128513053..128513960,2	MCF-7	breast:
35	chr5:128475005..128477113-chr5:128505141..128506795,2	MCF-7	breast:
36	chr5:128514076..128515653-chr5:128523008..128525189,2	MCF-7	breast:
37	chr5:128513064..128514027-chr5:128577044..128578155,18	MCF-7	breast:
38	chr5:128514742..128517177-chr5:128522195..128524803,2	MCF-7	breast:
39	chr5:128500983..128502962-chr5:128506741..128508660,2	MCF-7	breast:
40	chr5:128512367..128515269-chr5:128795837..128799200,3	MCF-7	breast:
41	chr5:128498612..128501498-chr5:128507388..128509963,2	MCF-7	breast:
42	chr5:128514076..128515653-chr5:128523008..128525189,2	MCF-7	breast:
43	chr5:128449482..128450272-chr5:128470907..128471897,5	MCF-7	breast:
44	chr5:128449401..128450328-chr5:128462057..128462852,2	MCF-7	breast:
45	chr5:128464646..128465258-chr5:128513053..128513960,2	MCF-7	breast:
46	chr5:128241389..128241984-chr5:128470334..128471103,2	MCF-7	breast:
47	chr5:128507985..128508858-chr5:129103369..129104142,2	K562	blood:
48	chr5:128463517..128466232-chr5:128467484..128470221,2	MCF-7	breast:
49	chr5:128500983..128502962-chr5:128506741..128508660,2	MCF-7	breast:
50	chr5:128501908..128504511-chr5:128797973..128800671,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249421	chromatin interactions
ENSG00000264563	chromatin interactions
ENSG00000145808	chromatin interactions
ENSG00000066583	chromatin interactions

Extended variants
information (count: 1830 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17768075	chr5:128460963-128460964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369737351	chr5:128460972-128460973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539295394	chr5:128460989-128460990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200643801	chr5:128461001-128461002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371091627	chr5:128461002-128461003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374731070	chr5:128461006-128461007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573744123	chr5:128461018-128461019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566960209	chr5:128461031-128461032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6862373	chr5:128461106-128461107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554960807	chr5:128461108-128461109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571681867	chr5:128461122-128461123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17163696	chr5:128461152-128461153	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557467487	chr5:128461154-128461155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535839023	chr5:128461155-128461156	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6862688	chr5:128461182-128461183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs143510833	chr5:128461273-128461274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs6862724	chr5:128461282-128461283	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs78540958	chr5:128461294-128461295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148022191	chr5:128461327-128461328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560065997	chr5:128461389-128461390	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528529390	chr5:128461436-128461437	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs141741702	chr5:128461456-128461457	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111411684	chr5:128461463-128461464	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs192644407	chr5:128461477-128461478	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376444202	chr5:128461561-128461562	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs150573965	chr5:128461609-128461610	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569796080	chr5:128461633-128461634	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529197413	chr5:128461680-128461681	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544109884	chr5:128461681-128461682	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548895364	chr5:128461756-128461757	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565625510	chr5:128461764-128461765	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534358948	chr5:128461797-128461798	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563703719	chr5:128461808-128461809	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370361257	chr5:128461815-128461816	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200761290	chr5:128461829-128461830	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371251418	chr5:128461833-128461834	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77734293	chr5:128461834-128461835	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537110903	chr5:128461862-128461863	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73239537	chr5:128461866-128461867	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs55931811	chr5:128461892-128461893	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543226655	chr5:128461945-128461946	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553743832	chr5:128461950-128461951	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142925509	chr5:128461954-128461955	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545420867	chr5:128461969-128461970	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367671266	chr5:128461972-128461973	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs374197072	chr5:128461986-128461987	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565236001	chr5:128461991-128461992	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552898342	chr5:128462001-128462002	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs723552	chr5:128462044-128462045	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183355909	chr5:128462083-128462084	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
4	chr5:128444000-128461600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:128444000-128461600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:128444000-128462400	Weak transcription	Gastric	stomach
8	chr5:128444600-128461600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:128447400-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:128448800-128461400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:128448800-128461600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:128448800-128461600	Weak transcription	Dnd41	blood
13	chr5:128449000-128461400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:128449400-128461200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:128453000-128461600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:128453200-128461600	Weak transcription	Fetal Intestine Large	intestine
17	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:128453800-128461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:128454000-128462200	Weak transcription	Fetal Stomach	stomach
20	chr5:128454200-128461600	Weak transcription	Adipose Nuclei	Adipose
21	chr5:128454200-128462000	Weak transcription	K562	blood
22	chr5:128454200-128462400	Weak transcription	Fetal Heart	heart
23	chr5:128454800-128461600	Weak transcription	Primary T cells from cord blood	blood
24	chr5:128460400-128461600	Enhancers	GM12878-XiMat	blood
25	chr5:128460600-128461000	Weak transcription	Liver	Liver
26	chr5:128460800-128461200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:128461000-128461400	Enhancers	Liver	Liver
28	chr5:128461200-128461400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:128461200-128461600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr5:128461200-128461600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:128461200-128461600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:128461200-128461600	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:128461200-128462400	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:128461200-128462600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:128461400-128461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:128461400-128462000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:128461400-128462200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:128461400-128462200	Flanking Active TSS	Liver	Liver
39	chr5:128461400-128462400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:128461400-128462400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:128461400-128462600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:128461400-128462600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:128461400-128462800	Enhancers	Stomach Mucosa	stomach
44	chr5:128461600-128461800	Enhancers	Primary T cells from cord blood	blood
45	chr5:128461600-128461800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:128461600-128461800	Enhancers	Dnd41	blood
47	chr5:128461600-128462000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr5:128461600-128462000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr5:128461600-128462000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:128461600-128462000	Enhancers	Duodenum Smooth Muscle	Duodenum

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