Variant report

Variant	nsv328371
Chromosome Location	chr5:37288871-37294107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:37293342-37293474	A549	lung:	n/a	n/a
2	CTCF	chr5:37292361-37292392	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:37291597-37291641	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:37291540-37291690	HEK293	kidney:	n/a	n/a
5	CTCF	chr5:37291580-37291730	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:37291600-37291750	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr5:37291070-37291155	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:37290833-37291194	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:37291052-37291142	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:37293374-37293761	K562	blood:	n/a	n/a
11	POLR2A	chr5:37290296-37290521	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:37290680-37290873	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:37290696-37291463	K562	blood:	n/a	n/a
14	POLR2A	chr5:37290785-37290804	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:37291982-37292215	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:37290589-37290603	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:37289153-37289334	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:37291273-37291453	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:37290975-37291235	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:37293546-37293757	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:37290919-37291136	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:37290735-37291419	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:37289719-37289722	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:37290738-37290854	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:37289267-37289273	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:37289260-37291474	K562	blood:	n/a	n/a
27	POLR2A	chr5:37289652-37289852	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:37290860-37290943	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:37289609-37290489	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:37290842-37290877	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:37289244-37289690	MCF-7	breast:	n/a	n/a
32	POLR2A	chr5:37290316-37290581	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:37290324-37290331	MCF-7	breast:	n/a	n/a
34	POLR2A	chr5:37288872-37288879	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:37290327-37290614	K562	blood:	n/a	n/a
36	POLR2A	chr5:37289592-37289701	HepG2	liver:	n/a	n/a
37	POLR2A	chr5:37290970-37290988	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr5:37290705-37291162	K562	blood:	n/a	n/a
39	POLR2A	chr5:37288914-37288940	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:37289415-37289551	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:
2	chr5:37288508..37291349-chr5:37291892..37294572,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270558	TF binding region
NUP155	TF binding region
ENSG00000113569	chromatin interactions
ENSG00000197603	chromatin interactions

Extended variants
information (count: 216 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371786888	chr5:37288873-37288874	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549532264	chr5:37288876-37288877	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372473048	chr5:37288881-37288882	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182187513	chr5:37288892-37288893	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186860783	chr5:37288924-37288925	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs140491224	chr5:37288935-37288936	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530234333	chr5:37288940-37288941	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572446963	chr5:37288947-37288948	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539449899	chr5:37288983-37288984	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1143189	chr5:37288996-37288997	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113574938	chr5:37289011-37289012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78406874	chr5:37289023-37289024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183151400	chr5:37289032-37289033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10070875	chr5:37289041-37289042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11750291	chr5:37289049-37289050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544050317	chr5:37289066-37289067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573627772	chr5:37289103-37289104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574266392	chr5:37289128-37289129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541784549	chr5:37289151-37289152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559791856	chr5:37289157-37289158	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527284000	chr5:37289191-37289192	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs551844898	chr5:37289201-37289202	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549687366	chr5:37289219-37289220	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561294191	chr5:37289227-37289228	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs549444625	chr5:37289274-37289275	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187124265	chr5:37289326-37289327	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190419281	chr5:37289395-37289396	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182605810	chr5:37289398-37289399	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547718536	chr5:37289414-37289415	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187618897	chr5:37289462-37289463	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539831322	chr5:37289487-37289488	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536160151	chr5:37289489-37289490	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75561380	chr5:37289499-37289500	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570009126	chr5:37289523-37289524	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs537574676	chr5:37289562-37289563	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555885618	chr5:37289585-37289586	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574327906	chr5:37289646-37289647	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs55658417	chr5:37289670-37289671	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs2366276	chr5:37289690-37289691	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs541591806	chr5:37289775-37289776	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs768220	chr5:37289789-37289790	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193217751	chr5:37289804-37289805	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142143537	chr5:37289824-37289825	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145988511	chr5:37289835-37289836	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575565719	chr5:37289927-37289928	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531192291	chr5:37289975-37289976	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543154177	chr5:37289981-37289982	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561446547	chr5:37289987-37289988	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544670891	chr5:37289991-37289992	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529060611	chr5:37290034-37290035	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Autism	22549408	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37282400-37290400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:37284200-37289000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:37284400-37289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:37284600-37290200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:37285400-37297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:37285600-37289200	Weak transcription	Fetal Thymus	thymus
7	chr5:37285600-37289400	Weak transcription	Hela-S3	cervix
8	chr5:37285600-37289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:37285600-37298000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:37285800-37289200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:37285800-37289200	Weak transcription	Thymus	Thymus
12	chr5:37286000-37289200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:37286000-37289200	Weak transcription	Pancreas	Pancrea
14	chr5:37286000-37289200	Weak transcription	A549	lung
15	chr5:37286000-37289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:37286000-37290200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:37286000-37290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:37286000-37290600	Weak transcription	Primary T cells from cord blood	blood
19	chr5:37286200-37289400	Weak transcription	Liver	Liver
20	chr5:37286200-37289600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:37286200-37290000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:37286200-37290200	Weak transcription	Adipose Nuclei	Adipose
23	chr5:37286400-37289400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:37286800-37289200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:37287000-37289200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:37287000-37289400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:37287000-37289400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:37287000-37289400	Weak transcription	Placenta	Placenta
29	chr5:37287000-37289400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:37287000-37289600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:37287000-37290200	Weak transcription	Fetal Kidney	kidney
32	chr5:37287000-37290200	Weak transcription	Fetal Stomach	stomach
33	chr5:37287000-37290400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:37287000-37296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:37287000-37298800	Weak transcription	Fetal Brain Male	brain
36	chr5:37287200-37289200	Weak transcription	HSMM	muscle
37	chr5:37287200-37289400	Weak transcription	HMEC	breast
38	chr5:37287200-37289600	Weak transcription	Primary B cells from cord blood	blood
39	chr5:37287200-37296800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:37287200-37297400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:37287400-37289000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:37287400-37289200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:37287400-37289400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:37287400-37289800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:37287400-37291200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:37287400-37296400	Weak transcription	Brain Germinal Matrix	brain
47	chr5:37287600-37289200	Weak transcription	Left Ventricle	heart
48	chr5:37287600-37289400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:37287600-37289400	Weak transcription	GM12878-XiMat	blood
50	chr5:37287600-37289600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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