Variant report

Variant	nsv882734
Chromosome Location	chr5:115112928-115130906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:115117221-115117224	K562	blood:	n/a	n/a
2	CEBPB	chr5:115124161-115124505	K562	blood:	n/a	chr5:115124329-115124342 chr5:115124331-115124340 chr5:115124331-115124340 chr5:115124331-115124340
3	CEBPB	chr5:115124224-115124478	Hela-S3	cervix:	n/a	chr5:115124329-115124342 chr5:115124331-115124340 chr5:115124331-115124340 chr5:115124331-115124340
4	CEBPB	chr5:115124169-115124470	H1-hESC	embryonic stem cell:	n/a	chr5:115124329-115124342 chr5:115124331-115124340 chr5:115124331-115124340 chr5:115124331-115124340
5	CEBPB	chr5:115124151-115124492	IMR90	lung:	n/a	chr5:115124329-115124342 chr5:115124331-115124340 chr5:115124331-115124340 chr5:115124331-115124340
6	CEBPB	chr5:115124153-115124510	HepG2	liver:	n/a	chr5:115124329-115124342 chr5:115124331-115124340 chr5:115124331-115124340 chr5:115124331-115124340
7	CEBPB	chr5:115124158-115124512	A549	lung:	n/a	chr5:115124329-115124342 chr5:115124331-115124340 chr5:115124331-115124340 chr5:115124331-115124340
8	CTCF	chr5:115130674-115130728	Fibrobl	skin:	n/a	n/a
9	CTCF	chr5:115130655-115130679	MCF-7	breast:	n/a	n/a
10	E2F4	chr5:115118212-115118479	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr5:115117586-115117752	HepG2	liver:	n/a	n/a
12	MAFF	chr5:115125187-115125280	HepG2	liver:	n/a	chr5:115125250-115125268
13	MAFK	chr5:115118828-115119059	HepG2	liver:	n/a	n/a
14	MAFK	chr5:115115048-115115257	HepG2	liver:	n/a	n/a
15	MAFK	chr5:115125200-115125302	HepG2	liver:	n/a	chr5:115125252-115125267
16	MAFK	chr5:115125209-115125328	HepG2	liver:	n/a	chr5:115125252-115125267
17	MYC	chr5:115122552-115122624	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:115121439-115121725	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:115112872-115112996	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:115115518-115115653	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:115124229-115124289	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:115125059-115125096	Gliobla	brain:	n/a	n/a
23	POLR2A	chr5:115117333-115117458	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:115121396-115121616	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:115129821-115130093	GM12878	blood:	n/a	n/a
26	RFX5	chr5:115114600-115114606	K562	blood:	n/a	n/a
27	SMC3	chr5:115124310-115124360	HepG2	liver:	n/a	n/a
28	STAT3	chr5:115114147-115114205	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr5:115117084-115117096	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr5:115119662-115119862	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr5:115128007-115128269	MCF10A-Er-Src	breast:	n/a	n/a
32	TAF1	chr5:115121375-115121744	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr5:115121353-115121718	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:86588289..86588860-chr5:115112842..115113676,2	MCF-7	breast:
2	chr5:115122571..115125137-chr5:115132852..115135417,2	K562	blood:
3	chr5:115109021..115111170-chr5:115113297..115115929,2	MCF-7	breast:
4	chr5:115113442..115116376-chr5:115135444..115138235,2	MCF-7	breast:
5	chr5:115130205..115131867-chr5:115132318..115134731,2	K562	blood:
6	chr5:115089796..115091437-chr5:115120054..115122203,2	MCF-7	breast:
7	chr5:115117741..115119948-chr5:115190584..115192982,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDO1-2	chr5:115118858-115120121	l_2998_chr5:115102646-115120121_liver

Variant related genes	Relation type
RNU2-49P	TF binding region
ENSG00000248709	chromatin interactions
ENSG00000222598	chromatin interactions

Extended variants
information (count: 545 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6869363	chr5:115112928-115112929	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558225457	chr5:115113012-115113013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578249657	chr5:115113027-115113028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190782415	chr5:115113033-115113034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537925567	chr5:115113058-115113059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549545192	chr5:115113100-115113101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554058676	chr5:115113109-115113110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183021835	chr5:115113148-115113149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10069142	chr5:115113165-115113166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs10519427	chr5:115113176-115113177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572276450	chr5:115113190-115113191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530383903	chr5:115113213-115113214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147068153	chr5:115113220-115113221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563784526	chr5:115113256-115113257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74635882	chr5:115113266-115113267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546508588	chr5:115113300-115113301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142348579	chr5:115113311-115113312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187592664	chr5:115113326-115113327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs731650	chr5:115113363-115113364	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569326797	chr5:115113379-115113380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538389478	chr5:115113405-115113406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551779735	chr5:115113433-115113434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571703433	chr5:115113439-115113440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs731649	chr5:115113448-115113449	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs554468713	chr5:115113485-115113486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574104628	chr5:115113486-115113487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536861901	chr5:115113498-115113499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191542436	chr5:115113584-115113585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73780630	chr5:115113589-115113590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13183137	chr5:115113598-115113599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182480100	chr5:115113603-115113604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs13162974	chr5:115113606-115113607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369904780	chr5:115113622-115113623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13162990	chr5:115113632-115113633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13162992	chr5:115113633-115113634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543929657	chr5:115113653-115113654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17398582	chr5:115113683-115113684	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80248609	chr5:115113684-115113685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs141508834	chr5:115113685-115113686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187435418	chr5:115113707-115113708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150886756	chr5:115113717-115113718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13163012	chr5:115113726-115113727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577924238	chr5:115113803-115113804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138424958	chr5:115113806-115113807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545305929	chr5:115113925-115113926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191974673	chr5:115113958-115113959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73780631	chr5:115113960-115113961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551921424	chr5:115114000-115114001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114345067	chr5:115114027-115114028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs154762	chr5:115114030-115114031	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Retinoblastoma	22278416	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
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115091800-115117200	Weak transcription	Liver	Liver
2	chr5:115110800-115117400	Weak transcription	Ovary	ovary
3	chr5:115111000-115114000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:115112800-115113000	Enhancers	Right Atrium	heart
5	chr5:115114200-115114400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:115114400-115115000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:115117200-115118600	Enhancers	Liver	Liver
8	chr5:115117400-115117600	Enhancers	Ovary	ovary
9	chr5:115118600-115120000	Weak transcription	Liver	Liver
10	chr5:115120000-115120200	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:115120000-115121600	Enhancers	Liver	Liver
12	chr5:115120200-115120400	Enhancers	Fetal Muscle Leg	muscle
13	chr5:115120400-115121200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:115120800-115121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:115121000-115121800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:115121000-115122000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:115121000-115122000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:115121000-115122000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:115121000-115123200	Enhancers	Adipose Nuclei	Adipose
20	chr5:115121200-115121400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:115121200-115121600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:115121200-115121600	Enhancers	Fetal Muscle Leg	muscle
23	chr5:115121200-115121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:115121200-115122000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:115121200-115122000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:115121200-115122000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:115121200-115122000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:115121200-115122000	Enhancers	Fetal Lung	lung
29	chr5:115121200-115122200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:115121400-115122400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:115121400-115123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:115123600-115124000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:115130200-115130400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:115130200-115130400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:115130200-115130400	Enhancers	HepG2	liver
36	chr5:115130400-115131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:115130400-115131400	Weak transcription	HepG2	liver
38	chr5:115130400-115138400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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