Variant report

Variant	nsv462221
Chromosome Location	chr5:80834138-80883110
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
2	chr5:80846060..80848703-chr5:80848977..80851148,2	MCF-7	breast:
3	chr5:80859809..80862860-chr5:80870280..80872948,3	K562	blood:
4	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
5	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
6	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:
7	chr5:80842997..80845139-chr5:81045840..81047643,2	MCF-7	breast:
8	chr5:80846060..80848703-chr5:80848977..80851148,2	MCF-7	breast:
9	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:
10	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:
11	chr5:80870794..80873300-chr5:80875722..80877575,2	K562	blood:
12	chr5:80874625..80877374-chr5:81570400..81571959,2	K562	blood:
13	chr5:80872758..80875728-chr5:80879949..80882376,2	K562	blood:
14	chr5:80853359..80856106-chr5:80858395..80860848,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145687	chromatin interactions

Extended variants
information (count: 1737 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1737 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2972235	chr5:80834138-80834139	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531723992	chr5:80834149-80834150	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539982819	chr5:80834174-80834175	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554001611	chr5:80834176-80834177	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13159526	chr5:80834229-80834230	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539524377	chr5:80834310-80834311	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115238435	chr5:80834313-80834314	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141019069	chr5:80834436-80834437	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150131206	chr5:80834457-80834458	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145646330	chr5:80834479-80834480	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184648049	chr5:80834508-80834509	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114370966	chr5:80834598-80834599	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560739003	chr5:80834600-80834601	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554926000	chr5:80834601-80834602	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577206302	chr5:80834660-80834661	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529898067	chr5:80834678-80834679	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369731715	chr5:80834758-80834759	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562822764	chr5:80834787-80834788	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2972234	chr5:80834788-80834789	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148896536	chr5:80834811-80834812	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187108561	chr5:80834833-80834834	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534091954	chr5:80834866-80834867	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34734202	chr5:80834868-80834869	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143462275	chr5:80834881-80834882	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570648967	chr5:80834887-80834888	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2972233	chr5:80834947-80834948	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191678971	chr5:80834948-80834949	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576053135	chr5:80835013-80835014	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535119807	chr5:80835043-80835044	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554950623	chr5:80835049-80835050	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184183779	chr5:80835099-80835100	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540544426	chr5:80835119-80835120	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189294154	chr5:80835130-80835131	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577397910	chr5:80835233-80835234	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546056070	chr5:80835240-80835241	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181033396	chr5:80835242-80835243	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56268725	chr5:80835310-80835311	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143578042	chr5:80835332-80835333	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562067397	chr5:80835353-80835354	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527660061	chr5:80835356-80835357	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547686103	chr5:80835361-80835362	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148649203	chr5:80835430-80835431	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185663535	chr5:80835444-80835445	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539666434	chr5:80835489-80835490	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2972232	chr5:80835504-80835505	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569470904	chr5:80835510-80835511	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145875540	chr5:80835579-80835580	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138701630	chr5:80835611-80835612	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144010566	chr5:80835612-80835613	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534300217	chr5:80835628-80835629	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Tetralogy of Fallot	22912587	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
3	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
4	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
5	chr5:80820200-80851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:80820800-80834600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:80821800-80836800	Weak transcription	NHDF-Ad	bronchial
8	chr5:80821800-80849000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
10	chr5:80827000-80840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:80827000-80848200	Weak transcription	Left Ventricle	heart
12	chr5:80827600-80835600	Enhancers	Primary T cells from cord blood	blood
13	chr5:80828400-80834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung
15	chr5:80830000-80848800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:80830000-80853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:80830200-80848600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:80830400-80845000	Weak transcription	Fetal Heart	heart
19	chr5:80830600-80840200	Weak transcription	Primary B cells from cord blood	blood
20	chr5:80830600-80841400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:80830800-80849600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:80830800-80850000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:80831000-80834200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:80831000-80845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:80831800-80834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:80832000-80835600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:80833000-80835000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:80833000-80835000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:80833000-80835000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:80833000-80835200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:80833000-80835200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:80833000-80835400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:80833200-80834400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:80833200-80835000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr5:80833200-80835000	Enhancers	Fetal Thymus	thymus
36	chr5:80833200-80835200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:80833200-80835600	Enhancers	Thymus	Thymus
38	chr5:80833400-80834400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:80833600-80834200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr5:80833600-80835400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr5:80833800-80834400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:80833800-80841400	Weak transcription	Stomach Mucosa	stomach
43	chr5:80834000-80834400	Enhancers	Dnd41	blood
44	chr5:80834000-80834600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr5:80834000-80834600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr5:80834000-80834800	Enhancers	Primary B cells from peripheral blood	blood
47	chr5:80834000-80836600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:80834000-80849600	Weak transcription	Brain Angular Gyrus	brain
49	chr5:80834000-80851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:80834200-80834600	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links