Variant report

Variant	nsv599446
Chromosome Location	chr5:114041080-114166068
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114125530..114126082-chr5:114137895..114138833,2	MCF-7	breast:
2	chr5:114041267..114043614-chr5:114045209..114048129,2	K562	blood:
3	chr5:114139161..114139984-chr5:114369361..114370136,2	MCF-7	breast:
4	chr5:114138711..114139387-chr5:114369334..114369873,2	MCF-7	breast:
5	chr5:114133331..114134215-chr5:114369304..114370183,3	MCF-7	breast:
6	chr5:114041267..114043614-chr5:114045209..114048129,2	K562	blood:
7	chr5:114028110..114029775-chr5:114042253..114044572,2	K562	blood:
8	chr5:114139185..114139978-chr5:114404825..114405439,2	MCF-7	breast:
9	chr5:114125530..114126082-chr5:114137895..114138833,2	MCF-7	breast:

No data

Extended variants
information (count: 1387 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1387 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188470149	chr5:114041227-114041228	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs150990310	chr5:114041241-114041242	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191753736	chr5:114041252-114041253	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184299076	chr5:114041264-114041265	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533970919	chr5:114041277-114041278	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34635775	chr5:114041285-114041286	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140569075	chr5:114041292-114041293	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560452943	chr5:114041298-114041299	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12521117	chr5:114041333-114041334	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs567233741	chr5:114041340-114041341	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75523404	chr5:114041342-114041343	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145702910	chr5:114041363-114041364	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138362915	chr5:114041377-114041378	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546047554	chr5:114041381-114041382	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188757954	chr5:114041397-114041398	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573149721	chr5:114041459-114041460	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371885688	chr5:114041493-114041494	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540465740	chr5:114041515-114041516	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141216496	chr5:114041558-114041559	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529351048	chr5:114041560-114041561	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78944182	chr5:114051815-114051816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs151267835	chr5:114051832-114051833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562500736	chr5:114051842-114051843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533138661	chr5:114051848-114051849	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551216891	chr5:114051863-114051864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs13180101	chr5:114051892-114051893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566547920	chr5:114051899-114051900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189377101	chr5:114051903-114051904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs13180106	chr5:114051905-114051906	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548544339	chr5:114051922-114051923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534940558	chr5:114051929-114051930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111338516	chr5:114051939-114051940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568417900	chr5:114051946-114051947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs66904157	chr5:114051994-114051995	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs68071406	chr5:114052022-114052023	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569399373	chr5:114052040-114052041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539999352	chr5:114052042-114052043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558002754	chr5:114052073-114052074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575839168	chr5:114052134-114052135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545569469	chr5:114052156-114052157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573252327	chr5:114052215-114052216	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540649389	chr5:114052251-114052252	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370879684	chr5:114052266-114052267	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs192218738	chr5:114052268-114052269	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573992149	chr5:114052271-114052272	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544556962	chr5:114052303-114052304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs77954152	chr5:114052316-114052317	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533015654	chr5:114052331-114052332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs545154350	chr5:114052334-114052335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560013025	chr5:114052350-114052351	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	21339820	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114041200-114041600	Bivalent/Poised TSS	Aorta	Aorta
2	chr5:114051800-114052600	Active TSS	Right Atrium	heart
3	chr5:114052600-114054400	Weak transcription	Right Atrium	heart
4	chr5:114058400-114059000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:114061600-114063000	Enhancers	HSMMtube	muscle
6	chr5:114062800-114063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:114062800-114063400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:114084800-114085000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:114085000-114085600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:114085000-114085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:114085600-114091200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:114085800-114086000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:114086000-114086800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:114086800-114087200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:114091200-114091800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:114091800-114095000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:114095000-114095200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:114095200-114095800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:114095800-114096000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:114108200-114110200	Enhancers	Adipose Nuclei	Adipose
21	chr5:114109400-114110200	Enhancers	Fetal Brain Female	brain
22	chr5:114110200-114118400	Weak transcription	Adipose Nuclei	Adipose
23	chr5:114111800-114112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:114112800-114118000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:114117800-114118800	Enhancers	Fetal Muscle Leg	muscle
26	chr5:114118000-114118400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:114118400-114118600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:114118400-114119000	Enhancers	Adipose Nuclei	Adipose
29	chr5:114118600-114119000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:114118600-114119000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:114119000-114119600	Weak transcription	Adipose Nuclei	Adipose
32	chr5:114119600-114120800	Enhancers	Adipose Nuclei	Adipose
33	chr5:114125400-114126000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:114129200-114129800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:114141600-114142200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:114165000-114165400	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:114165600-114166000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:114165600-114166000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:114165600-114166000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:114166000-114175000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links