Variant report

Variant	rs2736273
Chromosome Location	chr8:11199938-11199939
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11197853..11202085-chr8:11202628..11206812,8	K562	blood:
2	chr8:11193886..11197724-chr8:11199871..11205497,8	K562	blood:
3	chr8:11190703..11193064-chr8:11198301..11200688,2	K562	blood:

Variant related genes	Relation type
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1047950	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11250130	0.84[EUR][1000 genomes]
rs11777746	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11781637	0.84[EUR][1000 genomes]
rs11782430	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11784572	0.87[ASN][1000 genomes]
rs12547100	0.82[AMR][1000 genomes]
rs12550129	0.82[AMR][1000 genomes]
rs12676062	0.80[ASN][1000 genomes]
rs12676613	0.80[ASN][1000 genomes]
rs13260727	0.82[AMR][1000 genomes]
rs13268126	0.82[AMR][1000 genomes]
rs13274106	0.82[AMR][1000 genomes]
rs1435274	0.80[AMR][1000 genomes]
rs1435275	0.80[AMR][1000 genomes]
rs1435277	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865521	0.82[AMR][1000 genomes]
rs2246606	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2249804	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2250028	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2251473	0.93[ASN][1000 genomes]
rs2409756	0.82[AMR][1000 genomes]
rs2437152	0.80[AMR][1000 genomes]
rs2572379	0.80[AMR][1000 genomes]
rs2572380	0.80[AMR][1000 genomes]
rs2572382	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2572385	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572386	0.80[AMR][1000 genomes]
rs2572387	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2572389	0.80[AMR][1000 genomes]
rs2572394	0.80[AMR][1000 genomes]
rs2572397	0.93[ASN][1000 genomes]
rs2572399	0.80[AMR][1000 genomes]
rs2572400	0.80[AMR][1000 genomes]
rs2572404	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736264	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736265	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2736266	0.82[EUR][1000 genomes]
rs2736270	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736278	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2736290	0.80[AMR][1000 genomes]
rs2736293	0.80[AMR][1000 genomes]
rs2736294	0.80[AMR][1000 genomes]
rs2736295	0.80[AMR][1000 genomes]
rs2736296	0.80[AMR][1000 genomes]
rs2736297	0.80[AMR][1000 genomes]
rs2736298	0.81[AMR][1000 genomes]
rs2736300	0.80[AMR][1000 genomes]
rs2736302	0.80[AMR][1000 genomes]
rs2736303	0.80[AMR][1000 genomes]
rs34389419	0.85[AMR][1000 genomes]
rs34482136	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34964435	0.82[AMR][1000 genomes]
rs35009431	0.82[AMR][1000 genomes]
rs35418978	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4363158	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4448232	0.82[AMR][1000 genomes]
rs4631424	0.80[AMR][1000 genomes]
rs4841524	0.82[AMR][1000 genomes]
rs55758514	0.80[AMR][1000 genomes]
rs57629785	0.80[AMR][1000 genomes]
rs6601582	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6601584	0.82[AMR][1000 genomes]
rs7816606	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7821302	0.80[AMR][1000 genomes]
rs7821459	0.80[AMR][1000 genomes]
rs7828263	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7834572	0.80[AMR][1000 genomes]
rs7839307	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2736273	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs2736273	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11194800-11204200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:11195400-11202800	Weak transcription	K562	blood

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