Variant report

Variant	rs454578
Chromosome Location	chr5:80966666-80966667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80965614..80968004-chr5:80970828..80973570,3	K562	blood:
2	chr5:80961823..80964261-chr5:80965222..80967772,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2917545	0.85[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap]
rs2921499	0.92[AFR][1000 genomes]
rs2972227	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs2972239	0.85[CHB][hapmap]
rs2972241	0.85[CHB][hapmap]
rs2973335	0.85[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes]
rs2973336	0.85[CHB][hapmap]
rs2973347	0.84[CHB][hapmap]
rs369382	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373479	0.86[EUR][1000 genomes]
rs374700	0.91[EUR][1000 genomes]
rs3943733	0.82[ASW][hapmap];0.80[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs401912	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs402390	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs406465	0.90[CHB][hapmap];0.97[CHD][hapmap];0.90[MEX][hapmap]
rs411841	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs417684	0.90[CHB][hapmap]
rs433118	0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs433366	0.90[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs435070	0.90[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs447747	0.83[AMR][1000 genomes]
rs7709916	0.87[CHD][hapmap]
rs827059	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
2	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
4	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:80948000-80971000	Weak transcription	Primary T cells from cord blood	blood
6	chr5:80950200-80975600	Weak transcription	Thymus	Thymus
7	chr5:80951800-80970800	Weak transcription	Primary B cells from cord blood	blood
8	chr5:80953600-80966800	Weak transcription	Fetal Lung	lung
9	chr5:80956800-80970000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:80956800-80971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:80957200-80966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:80962000-80968800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:80962000-80971000	Weak transcription	Fetal Thymus	thymus
14	chr5:80963200-80972200	Weak transcription	Ovary	ovary
15	chr5:80963400-80983200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:80963400-80983400	Weak transcription	Left Ventricle	heart
17	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:80964000-80970600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:80965600-80967400	Enhancers	Dnd41	blood
20	chr5:80966200-80967200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:80966600-80967800	Enhancers	Colon Smooth Muscle	Colon

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