Variant report

Variant	rs1792285
Chromosome Location	chr11:71134731-71134732
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:71134283-71134735	GM12878	blood:	n/a	n/a
2	CEBPB	chr11:71134700-71134826	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr11:71134134-71134742	GM12878	blood:	n/a	chr11:71134475-71134484

Variant related genes	Relation type
ENSG00000172900	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1044535	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10751102	0.91[EUR][1000 genomes]
rs10792743	0.86[EUR][1000 genomes]
rs10898117	0.81[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11233606	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11608138	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281481	0.88[EUR][1000 genomes]
rs1616994	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1623080	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1626291	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790325	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790326	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790327	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790329	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790334	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790336	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1790337	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790346	0.94[EUR][1000 genomes]
rs1790347	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790348	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790351	0.94[EUR][1000 genomes]
rs1790354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790355	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790357	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790366	0.89[CHB][hapmap]
rs1790373	0.94[EUR][1000 genomes]
rs1790374	0.80[AFR][1000 genomes]
rs1792238	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1792243	0.87[AMR][1000 genomes]
rs1792265	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792268	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792270	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792271	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792272	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792273	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792274	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792275	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792276	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1792279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792316	0.94[EUR][1000 genomes]
rs1792319	0.91[EUR][1000 genomes]
rs2155425	0.86[EUR][1000 genomes]
rs2186773	0.83[EUR][1000 genomes]
rs2186778	0.91[EUR][1000 genomes]
rs2276353	0.91[EUR][1000 genomes]
rs2276354	0.91[EUR][1000 genomes]
rs2282617	0.91[EUR][1000 genomes]
rs2282618	0.91[EUR][1000 genomes]
rs2282619	0.83[EUR][1000 genomes]
rs2298772	0.88[EUR][1000 genomes]
rs2511279	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851693	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3763859	0.91[EUR][1000 genomes]
rs3763860	0.91[EUR][1000 genomes]
rs3794065	0.91[EUR][1000 genomes]
rs3794066	0.91[EUR][1000 genomes]
rs3794067	0.91[EUR][1000 genomes]
rs3814731	0.91[EUR][1000 genomes]
rs3814734	0.91[EUR][1000 genomes]
rs4944063	0.91[EUR][1000 genomes]
rs4944064	0.91[EUR][1000 genomes]
rs4944075	0.88[EUR][1000 genomes]
rs4945001	0.88[EUR][1000 genomes]
rs4945007	0.86[EUR][1000 genomes]
rs4945013	0.83[EUR][1000 genomes]
rs6592154	0.91[EUR][1000 genomes]
rs6592180	0.83[EUR][1000 genomes]
rs7110053	0.81[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110316	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7123973	0.91[EUR][1000 genomes]
rs7124675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129099	0.88[EUR][1000 genomes]
rs71464391	0.83[ASN][1000 genomes]
rs751389	0.88[EUR][1000 genomes]
rs760241	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7690	0.94[EUR][1000 genomes]
rs7926054	0.83[EUR][1000 genomes]
rs7950584	0.86[EUR][1000 genomes]
rs949176	0.94[EUR][1000 genomes]
rs949177	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

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
rs1792285	NADSYN1	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71123600-71139600	Weak transcription	Right Atrium	heart
2	chr11:71132600-71144000	Weak transcription	Spleen	Spleen
3	chr11:71133800-71135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:71133800-71135400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:71134000-71135000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:71134000-71135000	Flanking Active TSS	GM12878-XiMat	blood
7	chr11:71134000-71135200	Enhancers	Primary B cells from cord blood	blood
8	chr11:71134000-71135400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:71134000-71135400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:71134000-71135400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:71134000-71135400	Enhancers	HMEC	breast
12	chr11:71134600-71135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:71134600-71135200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:71134600-71135400	Enhancers	Brain Substantia Nigra	brain
15	chr11:71134600-71135600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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