Variant report

Variant	rs433366
Chromosome Location	chr5:80990358-80990359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2972227	0.84[CHD][hapmap]
rs2973335	0.84[CHD][hapmap]
rs369382	0.90[EUR][1000 genomes]
rs373479	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs374700	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs401912	0.90[CEU][hapmap];0.84[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs402390	0.90[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs406465	0.81[CHD][hapmap]
rs435070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs454578	0.90[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs827059	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
3	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:80983800-80992400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
7	chr5:80984000-80996000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:80984000-81011600	Weak transcription	Lung	lung
9	chr5:80984200-80995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:80984200-80996000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
12	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:80984600-80992200	Weak transcription	Thymus	Thymus
14	chr5:80984600-80992400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:80984600-80992600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:80984600-80995800	Weak transcription	Aorta	Aorta
17	chr5:80985600-80996200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:80987600-80991000	Strong transcription	Fetal Thymus	thymus
19	chr5:80988000-80992000	Weak transcription	Fetal Brain Female	brain
20	chr5:80988600-80995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:80988600-80995400	Weak transcription	Primary B cells from cord blood	blood
22	chr5:80988600-80995800	Weak transcription	Primary T cells from cord blood	blood
23	chr5:80988600-80995800	Weak transcription	Fetal Lung	lung
24	chr5:80988800-80992000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:80989200-80990400	Strong transcription	Dnd41	blood
26	chr5:80989200-80991000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:80989200-80992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:80989200-80992000	Weak transcription	Psoas Muscle	Psoas
29	chr5:80989200-80995000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:80989200-80995400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:80989200-80995600	Weak transcription	Fetal Stomach	stomach
32	chr5:80989400-80991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:80990000-80991000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:80990000-80992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:80990000-80992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:80990200-80992600	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links