Variant report

Variant	rs58891308
Chromosome Location	chr12:42413495-42413496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1074428	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11181284	0.85[ASN][1000 genomes]
rs11610892	0.89[AMR][1000 genomes]
rs11611399	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11613623	0.93[AMR][1000 genomes]
rs12313210	0.85[ASN][1000 genomes]
rs12812537	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12812574	0.96[EUR][1000 genomes]
rs12813181	0.93[AMR][1000 genomes]
rs12819127	0.89[AMR][1000 genomes]
rs12819341	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12823639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12824122	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1492364	0.89[EUR][1000 genomes]
rs17224170	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17224177	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1732340	0.94[EUR][1000 genomes]
rs1872444	0.93[AMR][1000 genomes]
rs1920699	0.85[ASN][1000 genomes]
rs34064806	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34329231	0.89[AMR][1000 genomes]
rs34331898	0.93[AMR][1000 genomes]
rs34619605	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34669984	0.93[AMR][1000 genomes]
rs34827386	0.82[AMR][1000 genomes]
rs34842994	0.89[AMR][1000 genomes]
rs35644702	0.93[AMR][1000 genomes]
rs35682620	0.93[AMR][1000 genomes]
rs35986152	0.93[AMR][1000 genomes]
rs3990974	0.83[AMR][1000 genomes]
rs4264206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4332578	0.94[EUR][1000 genomes]
rs56142563	0.93[AMR][1000 genomes]
rs61279714	0.93[AMR][1000 genomes]
rs67788023	0.93[AMR][1000 genomes]
rs68185827	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7960537	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42402800-42417000	Weak transcription	Right Atrium	heart
2	chr12:42409200-42416400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:42409200-42417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:42409600-42415000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42411400-42414400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:42411400-42414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:42411400-42417800	Weak transcription	GM12878-XiMat	blood
8	chr12:42411600-42414600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:42413400-42414000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:42413400-42414600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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