Variant report

Variant	rs1790337
Chromosome Location	chr11:71131388-71131389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71083691..71084429-chr11:71131113..71131671,2	MCF-7	breast:
2	chr11:71131198..71133245-chr11:71150610..71153048,2	MCF-7	breast:
3	chr11:71124869..71127186-chr11:71130587..71132175,2	K562	blood:
4	chr11:70831355..70832593-chr11:71131146..71132091,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1044535	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10751102	0.81[EUR][1000 genomes]
rs10898117	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11233606	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11608138	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1616994	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1623080	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1626291	0.84[EUR][1000 genomes]
rs1790325	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790326	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790327	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790329	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790334	0.90[ASW][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.84[EUR][1000 genomes]
rs1790336	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1790346	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1790347	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790348	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1790351	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1790354	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790355	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790356	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790357	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790366	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1790373	0.84[EUR][1000 genomes]
rs1790374	0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1792238	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1792243	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1792265	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792268	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792270	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792271	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792272	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792273	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792274	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792275	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1792276	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792278	1.00[CEU][hapmap]
rs1792279	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1792285	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1792316	0.90[ASW][hapmap];0.97[GIH][hapmap];0.81[MKK][hapmap];0.84[EUR][1000 genomes]
rs1792319	0.81[EUR][1000 genomes]
rs2186778	0.97[GIH][hapmap];0.81[EUR][1000 genomes]
rs2276353	0.81[EUR][1000 genomes]
rs2276354	0.81[EUR][1000 genomes]
rs2282617	0.81[EUR][1000 genomes]
rs2282618	0.81[EUR][1000 genomes]
rs2511277	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2511279	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3763859	0.81[EUR][1000 genomes]
rs3763860	0.81[EUR][1000 genomes]
rs3794065	0.81[EUR][1000 genomes]
rs3794066	0.81[EUR][1000 genomes]
rs3794067	0.81[EUR][1000 genomes]
rs3814731	0.90[ASW][hapmap];0.93[GIH][hapmap];0.81[EUR][1000 genomes]
rs3814734	0.81[EUR][1000 genomes]
rs4944063	0.90[ASW][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.81[EUR][1000 genomes]
rs4944064	0.90[ASW][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap];0.81[EUR][1000 genomes]
rs4945007	0.90[ASW][hapmap];0.93[GIH][hapmap]
rs6592154	0.81[EUR][1000 genomes]
rs6592180	0.90[ASW][hapmap];0.91[GIH][hapmap]
rs7110053	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7110316	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7123973	0.81[EUR][1000 genomes]
rs7124675	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs751389	0.90[ASW][hapmap];0.93[GIH][hapmap]
rs760241	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7690	0.84[EUR][1000 genomes]
rs949176	0.84[EUR][1000 genomes]
rs949177	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs949178	0.81[ASW][hapmap];0.93[GIH][hapmap];0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1790337	NADSYN1	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71123600-71139600	Weak transcription	Right Atrium	heart
2	chr11:71129000-71131800	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:71129200-71133600	Enhancers	Primary B cells from cord blood	blood
4	chr11:71129200-71134000	Enhancers	GM12878-XiMat	blood
5	chr11:71130600-71131400	Enhancers	Duodenum Mucosa	Duodenum
6	chr11:71131000-71132000	Enhancers	Primary neutrophils fromperipheralblood	blood

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