Variant report

Variant	rs28943882
Chromosome Location	chr5:42595111-42595112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10041108	1.00[CHB][hapmap]
rs10440649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10941582	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11948120	0.84[EUR][1000 genomes]
rs11948453	0.94[CEU][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes]
rs11957404	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs13156541	1.00[CHB][hapmap]
rs13163126	0.91[EUR][1000 genomes]
rs13171720	1.00[CHB][hapmap]
rs13173465	0.92[EUR][1000 genomes]
rs13175765	0.92[EUR][1000 genomes]
rs13182117	1.00[CHB][hapmap]
rs13184352	1.00[CHB][hapmap]
rs13188386	1.00[CHB][hapmap]
rs13354167	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17574527	1.00[CHB][hapmap]
rs17574616	1.00[CHB][hapmap]
rs17575164	1.00[CHB][hapmap]
rs17636762	1.00[CHB][hapmap]
rs35893798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4129472	1.00[CHB][hapmap]
rs4292454	1.00[CHB][hapmap]
rs4554233	1.00[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs4866791	0.94[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs5025611	1.00[CHB][hapmap]
rs6414898	1.00[CHB][hapmap]
rs6451634	1.00[CHB][hapmap]
rs6451641	1.00[CHB][hapmap]
rs6451643	1.00[CHB][hapmap]
rs6863381	1.00[CHB][hapmap]
rs6873340	1.00[CHB][hapmap]
rs7444761	1.00[CHB][hapmap]
rs7702524	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs7703669	1.00[CHB][hapmap]
rs7709370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7709790	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7718962	1.00[CHB][hapmap]
rs9292854	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42591800-42597600	Weak transcription	K562	blood
2	chr5:42592000-42596800	Weak transcription	Right Atrium	heart
3	chr5:42592000-42614400	Weak transcription	Aorta	Aorta
4	chr5:42592200-42595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:42592200-42595800	Weak transcription	Left Ventricle	heart
6	chr5:42592200-42595800	Weak transcription	Psoas Muscle	Psoas
7	chr5:42592200-42600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:42592200-42605800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:42592400-42595200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:42592400-42595600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:42592400-42595800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:42592400-42595800	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:42592400-42595800	Weak transcription	Right Ventricle	heart
14	chr5:42592400-42595800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:42593000-42601200	Enhancers	Liver	Liver
16	chr5:42593600-42595800	Weak transcription	HSMMtube	muscle
17	chr5:42594000-42595600	Weak transcription	HSMM	muscle
18	chr5:42594000-42597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:42594000-42597800	Weak transcription	Fetal Lung	lung
20	chr5:42594200-42598200	Weak transcription	Adipose Nuclei	Adipose
21	chr5:42594800-42595200	Weak transcription	Fetal Heart	heart

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