Variant report

Variant	rs1424946
Chromosome Location	chr2:148547865-148547866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1014064	0.96[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs10460259	0.96[CEU][hapmap];0.83[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs10497024	0.96[CEU][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs10803523	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1128919	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs11884013	0.95[EUR][1000 genomes]
rs11888152	0.96[CEU][hapmap];0.83[GIH][hapmap];0.95[TSI][hapmap]
rs11889608	0.91[EUR][1000 genomes]
rs11900506	0.92[CEU][hapmap];0.90[TSI][hapmap]
rs11901963	0.92[CEU][hapmap]
rs11904758	0.88[EUR][1000 genomes]
rs12053113	0.87[EUR][1000 genomes]
rs12463798	0.92[CEU][hapmap]
rs12464617	0.91[EUR][1000 genomes]
rs12469504	0.83[EUR][1000 genomes]
rs12469939	0.81[EUR][1000 genomes]
rs12472058	0.95[EUR][1000 genomes]
rs12475399	0.95[EUR][1000 genomes]
rs12479193	0.95[EUR][1000 genomes]
rs12987286	0.86[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs12989596	0.89[EUR][1000 genomes]
rs12990959	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs12997065	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12998729	0.96[CEU][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs13000597	0.87[EUR][1000 genomes]
rs13004041	0.81[EUR][1000 genomes]
rs13004451	0.90[EUR][1000 genomes]
rs13005423	0.94[EUR][1000 genomes]
rs13006184	0.81[EUR][1000 genomes]
rs13008497	0.96[CEU][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs13013743	0.92[EUR][1000 genomes]
rs13013867	0.91[EUR][1000 genomes]
rs13014904	0.92[EUR][1000 genomes]
rs13014926	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13016083	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13017754	0.92[EUR][1000 genomes]
rs13019386	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13019809	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs13022319	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13025219	0.90[EUR][1000 genomes]
rs13025589	0.91[EUR][1000 genomes]
rs13025701	0.96[EUR][1000 genomes]
rs13026220	0.92[EUR][1000 genomes]
rs13026650	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs13027200	0.81[EUR][1000 genomes]
rs13027706	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs13028411	0.88[EUR][1000 genomes]
rs13031064	0.81[EUR][1000 genomes]
rs13033696	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs13034494	0.89[EUR][1000 genomes]
rs13034561	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1345994	0.82[EUR][1000 genomes]
rs1364658	0.96[CEU][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1364660	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1424944	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1424949	0.96[EUR][1000 genomes]
rs1424954	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs1469210	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1531032	0.96[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs16855486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863152	0.92[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs1863153	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1895693	0.87[EUR][1000 genomes]
rs1991169	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs2059422	0.80[EUR][1000 genomes]
rs2113793	0.96[CEU][hapmap]
rs2161983	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs2161984	0.96[CEU][hapmap]
rs2161985	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288190	0.80[CEU][hapmap]
rs2303392	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2307394	0.96[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs34005843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34539489	0.81[EUR][1000 genomes]
rs35370215	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3764955	0.96[CEU][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs3768687	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs3768689	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs3926960	0.83[EUR][1000 genomes]
rs4972272	0.95[EUR][1000 genomes]
rs4972316	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4972356	0.92[EUR][1000 genomes]
rs4972357	0.89[EUR][1000 genomes]
rs57679331	0.81[EUR][1000 genomes]
rs6430241	0.96[EUR][1000 genomes]
rs6430242	0.96[EUR][1000 genomes]
rs6711673	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6729465	0.81[EUR][1000 genomes]
rs6729997	0.86[EUR][1000 genomes]
rs6734998	0.92[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs6760703	0.89[EUR][1000 genomes]
rs723681	0.96[CEU][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs7559714	0.88[EUR][1000 genomes]
rs7559925	0.89[EUR][1000 genomes]
rs7594075	0.81[EUR][1000 genomes]
rs7600869	0.96[EUR][1000 genomes]
rs929939	0.87[CEU][hapmap];0.83[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs9679427	0.96[EUR][1000 genomes]
rs987122	0.95[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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1424946	DYNLL1	trans	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148540600-148550200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:148546800-148548000	Enhancers	NH-A	brain
3	chr2:148546800-148548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:148547000-148548000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:148547000-148548200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:148547000-148548200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:148547200-148549800	Weak transcription	HSMM	muscle
8	chr2:148547400-148549400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:148547400-148549800	Weak transcription	HSMMtube	muscle
10	chr2:148547600-148549400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:148547600-148550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:148547800-148550600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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