Variant report

Variant	rs1790356
Chromosome Location	chr11:71133836-71133837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1044535	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10751102	0.86[EUR][1000 genomes]
rs10792743	0.81[EUR][1000 genomes]
rs10898117	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11233606	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11608138	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12281481	0.83[EUR][1000 genomes]
rs1616994	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1623080	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1626291	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790325	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790326	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790327	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790329	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790334	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1790336	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1790337	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790346	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1790347	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790348	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790351	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1790354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790357	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790366	1.00[CHB][hapmap]
rs1790373	0.89[EUR][1000 genomes]
rs1790374	0.81[CHB][hapmap];0.87[YRI][hapmap]
rs1792238	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1792243	0.87[AMR][1000 genomes]
rs1792265	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792268	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792270	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792271	1.00[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792272	0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792273	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792274	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792275	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792276	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1792278	1.00[CEU][hapmap]
rs1792279	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792285	0.81[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792316	1.00[ASW][hapmap];0.97[GIH][hapmap];0.84[MKK][hapmap];0.89[EUR][1000 genomes]
rs1792319	0.86[EUR][1000 genomes]
rs1792326	0.86[YRI][hapmap]
rs1792327	0.87[YRI][hapmap]
rs2155425	0.81[EUR][1000 genomes]
rs2186778	0.97[GIH][hapmap];0.86[EUR][1000 genomes]
rs2276353	0.86[EUR][1000 genomes]
rs2276354	0.86[EUR][1000 genomes]
rs2282617	0.86[EUR][1000 genomes]
rs2282618	0.86[EUR][1000 genomes]
rs2298772	0.83[EUR][1000 genomes]
rs2511277	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs2511279	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851693	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3763859	0.86[EUR][1000 genomes]
rs3763860	0.86[EUR][1000 genomes]
rs3794065	0.86[EUR][1000 genomes]
rs3794066	0.86[EUR][1000 genomes]
rs3794067	0.86[EUR][1000 genomes]
rs3814731	1.00[ASW][hapmap];0.93[GIH][hapmap];0.80[MKK][hapmap];0.86[EUR][1000 genomes]
rs3814734	0.86[EUR][1000 genomes]
rs4944063	1.00[ASW][hapmap];0.93[GIH][hapmap];0.84[MKK][hapmap];0.86[EUR][1000 genomes]
rs4944064	1.00[ASW][hapmap];0.93[GIH][hapmap];0.84[MKK][hapmap];0.86[EUR][1000 genomes]
rs4944075	0.83[EUR][1000 genomes]
rs4945001	0.83[EUR][1000 genomes]
rs4945007	1.00[ASW][hapmap];0.93[GIH][hapmap];0.82[MKK][hapmap];0.81[EUR][1000 genomes]
rs6592154	0.86[EUR][1000 genomes]
rs6592180	1.00[ASW][hapmap];0.91[GIH][hapmap];0.82[MKK][hapmap]
rs7110053	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110316	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7123973	0.86[EUR][1000 genomes]
rs7124675	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129099	0.83[EUR][1000 genomes]
rs71464391	0.83[ASN][1000 genomes]
rs751389	1.00[ASW][hapmap];0.93[GIH][hapmap];0.82[MKK][hapmap];0.83[EUR][1000 genomes]
rs760241	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7690	0.89[EUR][1000 genomes]
rs7950584	0.81[EUR][1000 genomes]
rs949176	0.89[EUR][1000 genomes]
rs949177	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs949178	0.90[ASW][hapmap];0.93[GIH][hapmap];0.84[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	esv3387998	chr11:71132818-71134521	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1790356	NADSYN1	cis	multi-tissue	Pritchard

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71123600-71139600	Weak transcription	Right Atrium	heart
2	chr11:71129200-71134000	Enhancers	GM12878-XiMat	blood
3	chr11:71132000-71134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:71132600-71144000	Weak transcription	Spleen	Spleen
5	chr11:71132800-71134000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:71133600-71134000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:71133800-71135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:71133800-71135400	Enhancers	Primary B cells from peripheral blood	blood

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