Variant report

Variant	nsv517223
Chromosome Location	chr5:81049540-81050914
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	ARID3A	chr5:81049568-81051331	K562	blood:	n/a	n/a
2	BHLHE40	chr5:81050505-81050773	K562	blood:	n/a	n/a
3	BRCA1	chr5:81050555-81050821	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:81050553-81050665	K562	blood:	n/a	n/a
5	CUX1	chr5:81050608-81050832	K562	blood:	n/a	n/a
6	EP300	chr5:81050601-81050731	GM12878	blood:	n/a	n/a
7	EP300	chr5:81050416-81050894	K562	blood:	n/a	n/a
8	EP300	chr5:81050443-81050839	K562	blood:	n/a	n/a
9	GATA1	chr5:81050370-81050898	PBDE	blood:	n/a	chr5:81050672-81050689
10	GATA3	chr5:81050599-81050625	SH-SY5Y	brain:	n/a	n/a
11	IRF1	chr5:81050164-81050835	K562	blood:	n/a	chr5:81050338-81050352 chr5:81050342-81050352 chr5:81050632-81050645 chr5:81050341-81050352 chr5:81050633-81050643 chr5:81050336-81050350 chr5:81050334-81050354
12	JUN	chr5:81050501-81050953	K562	blood:	n/a	n/a
13	JUND	chr5:81050513-81050797	K562	blood:	n/a	n/a
14	MAX	chr5:81050531-81050681	K562	blood:	n/a	n/a
15	MAX	chr5:81049247-81049589	K562	blood:	n/a	n/a
16	MAX	chr5:81049234-81049592	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAZ	chr5:81050502-81050677	K562	blood:	n/a	n/a
18	MYC	chr5:81050453-81050840	K562	blood:	n/a	n/a
19	MYC	chr5:81049168-81049614	K562	blood:	n/a	n/a
20	MYC	chr5:81050586-81050621	K562	blood:	n/a	n/a
21	MYC	chr5:81050515-81050760	K562	blood:	n/a	n/a
22	NFYB	chr5:81049611-81049811	GM12878	blood:	n/a	n/a
23	RCOR1	chr5:81050484-81050789	K562	blood:	n/a	n/a
24	RCOR1	chr5:81050375-81050735	K562	blood:	n/a	n/a
25	STAT5A	chr5:81050374-81050847	K562	blood:	n/a	chr5:81050657-81050671 chr5:81050656-81050671
26	STAT5A	chr5:81050434-81050852	K562	blood:	n/a	chr5:81050657-81050671 chr5:81050656-81050671
27	TAL1	chr5:81050457-81050882	K562	blood:	n/a	chr5:81050671-81050689
28	TBL1XR1	chr5:81050073-81050811	K562	blood:	n/a	n/a
29	TEAD4	chr5:81050368-81050839	K562	blood:	n/a	n/a
30	USF1	chr5:81049239-81049647	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr5:81050427-81050740	K562	blood:	n/a	n/a
32	USF1	chr5:81049307-81049565	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF1	chr5:81050501-81050726	K562	blood:	n/a	n/a
34	USF2	chr5:81049498-81049621	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF384	chr5:81049110-81049690	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:
2	chr5:81047531..81050440-chr5:81268054..81269557,2	K562	blood:
3	chr5:81050581..81052753-chr5:81057564..81059448,2	MCF-7	breast:
4	chr5:81043503..81052108-chr5:81144332..81149960,26	MCF-7	breast:
5	chr5:81046053..81048819-chr5:81049705..81052088,6	MCF-7	breast:
6	chr5:81047664..81050586-chr5:81054821..81057159,3	MCF-7	breast:
7	chr5:81045980..81049009-chr5:81049247..81053935,6	MCF-7	breast:
8	chr5:81045699..81050245-chr5:81142897..81150556,22	MCF-7	breast:
9	chr5:81044026..81052051-chr5:81142054..81153115,35	K562	blood:
10	chr5:81047832..81049783-chr5:81150744..81153734,2	MCF-7	breast:

Variant related genes	Relation type
SSBP2	TF binding region
ENSG00000152348	chromatin interactions
ENSG00000145687	chromatin interactions
ENSG00000249483	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12186776	chr5:81049540-81049541	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs546717824	chr5:81049581-81049582	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs189509970	chr5:81049586-81049587	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs144801947	chr5:81049664-81049665	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75452684	chr5:81049718-81049719	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs73139665	chr5:81049827-81049828	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539734954	chr5:81049839-81049840	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs6892898	chr5:81049915-81049916	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566836672	chr5:81049948-81049949	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs540065803	chr5:81049975-81049976	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs145465143	chr5:81049991-81049992	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs573803743	chr5:81050040-81050041	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs181440737	chr5:81050069-81050070	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs147657262	chr5:81050100-81050101	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs578136084	chr5:81050139-81050140	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs6893617	chr5:81050295-81050296	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115300299	chr5:81050336-81050337	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs528080223	chr5:81050354-81050355	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201541053	chr5:81050405-81050406	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs71988684	chr5:81050417-81050418	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs540243825	chr5:81050432-81050433	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs57638107	chr5:81050469-81050470	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529020573	chr5:81050487-81050488	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs562761025	chr5:81050497-81050498	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs550760172	chr5:81050519-81050520	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs569017300	chr5:81050545-81050546	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs392675	chr5:81050599-81050600	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186171809	chr5:81050613-81050614	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566691565	chr5:81050722-81050723	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142344111	chr5:81050734-81050735	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs144666773	chr5:81050746-81050747	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs567392333	chr5:81050799-81050800	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs371106505	chr5:81050823-81050824	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs73139667	chr5:81050855-81050856	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10057992	chr5:81050914-81050915	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81047800-81051400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:81048000-81049800	Flanking Active TSS	K562	blood
3	chr5:81048000-81054000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
5	chr5:81048200-81049800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:81048200-81050000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:81048200-81050200	Weak transcription	HSMM	muscle
8	chr5:81048200-81050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:81048200-81051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:81048200-81051000	Weak transcription	Osteobl	bone
11	chr5:81048200-81051200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:81048200-81051200	Weak transcription	NH-A	brain
13	chr5:81048200-81051200	Weak transcription	NHLF	lung
14	chr5:81048200-81051400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:81048200-81051400	Weak transcription	HSMMtube	muscle
16	chr5:81048200-81053200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:81048400-81050000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:81048400-81050400	Weak transcription	HMEC	breast
19	chr5:81048400-81050600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:81048400-81050600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:81048400-81050600	Weak transcription	NHDF-Ad	bronchial
22	chr5:81048400-81050600	Weak transcription	NHEK	skin
23	chr5:81048400-81051000	Enhancers	A549	lung
24	chr5:81048400-81051000	Weak transcription	HUVEC	blood vessel
25	chr5:81048400-81051200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:81048400-81051200	Weak transcription	Fetal Lung	lung
27	chr5:81048400-81051200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:81048400-81051200	Weak transcription	Stomach Mucosa	stomach
29	chr5:81048400-81051200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:81048400-81051400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:81048400-81051400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:81048400-81051600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:81048400-81051600	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:81048400-81051600	Weak transcription	Placenta	Placenta
35	chr5:81048400-81051600	Weak transcription	Psoas Muscle	Psoas
36	chr5:81048400-81052600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:81048400-81052800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:81048400-81053800	Weak transcription	Dnd41	blood
39	chr5:81048400-81055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:81048400-81056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:81048400-81056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:81048400-81060200	Weak transcription	Right Atrium	heart
43	chr5:81048400-81062400	Weak transcription	Left Ventricle	heart
44	chr5:81048600-81049600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:81048600-81050000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr5:81048600-81050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:81048600-81050600	Weak transcription	Hela-S3	cervix
48	chr5:81048600-81051000	Weak transcription	Adipose Nuclei	Adipose
49	chr5:81048600-81051200	Weak transcription	Brain Substantia Nigra	brain
50	chr5:81048600-81051200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links