Variant report

Variant	rs2283385
Chromosome Location	chr14:72841851-72841852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10129799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10137579	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138152	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10138180	0.80[MEX][hapmap]
rs1072166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1099968	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1356841	0.84[EUR][1000 genomes]
rs1356843	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs1812041	0.91[EUR][1000 genomes]
rs1915132	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2079504	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2079505	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2079506	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs2176841	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2190508	0.90[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2214965	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239229	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239230	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239232	0.91[EUR][1000 genomes]
rs2239234	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2239235	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2239238	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2239239	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2239241	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2239243	0.89[EUR][1000 genomes]
rs2247090	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs2283388	0.88[EUR][1000 genomes]
rs2332832	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529467	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2529468	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2529469	0.96[CEU][hapmap]
rs2529470	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2529471	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2681727	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2681728	0.81[TSI][hapmap]
rs2681730	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs2681731	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs2681733	0.90[EUR][1000 genomes]
rs2681734	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2681735	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs2681736	0.82[CEU][hapmap];0.96[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs2681741	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2681743	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2681744	0.91[EUR][1000 genomes]
rs2681745	0.90[EUR][1000 genomes]
rs2681746	0.80[EUR][1000 genomes]
rs2681747	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2681749	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2681751	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2681752	1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2681753	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2681754	0.89[ASW][hapmap];0.80[MEX][hapmap]
rs2681757	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2681767	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2681768	0.96[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2681769	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2681771	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2877805	0.95[CEU][hapmap]
rs7140973	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7150465	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151325	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs769148	0.83[CEU][hapmap]
rs8003559	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs8003591	0.89[EUR][1000 genomes]
rs8015917	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs8019358	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs8019371	0.82[EUR][1000 genomes]
rs8022859	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs8022956	0.89[EUR][1000 genomes]
rs847325	0.82[CEU][hapmap]
rs847329	0.83[CEU][hapmap]
rs886826	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs929413	0.96[CEU][hapmap];0.91[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2283385	PCNX	cis	parietal	SCAN
rs2283385	C14orf43	cis	cerebellum	SCAN
rs2283385	C14orf115	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72836000-72851400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:72838800-72842000	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links