Variant report

Variant	rs11172282
Chromosome Location	chr12:39875537-39875538
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39835987..39838839-chr12:39875095..39879250,5	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10876868	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10876876	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10876886	0.95[JPT][hapmap]
rs10876972	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10876989	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171674	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11171675	0.95[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs11171676	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11171720	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11171789	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11171891	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11171901	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs11171923	0.84[CEU][hapmap];0.94[JPT][hapmap]
rs11171938	1.00[CEU][hapmap];0.93[YRI][hapmap]
rs11172108	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs11172120	0.88[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172174	0.87[ASN][1000 genomes]
rs11172183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172235	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172264	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172293	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172319	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172320	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172492	0.84[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11172541	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172592	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs11172650	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172661	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs11830643	0.83[CEU][hapmap];0.95[JPT][hapmap]
rs11836755	0.90[JPT][hapmap]
rs12228767	0.83[CEU][hapmap];0.95[JPT][hapmap]
rs12230604	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs12424345	0.84[CEU][hapmap];0.95[JPT][hapmap]
rs1512936	0.95[JPT][hapmap]
rs1567739	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs1828653	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2388320	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs3736466	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4284427	0.88[JPT][hapmap]
rs4320988	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4378431	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466883	0.86[EUR][1000 genomes]
rs4492858	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4500523	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4564382	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58613501	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59695906	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60263267	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60900225	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6581188	0.92[EUR][1000 genomes]
rs7137143	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs73094410	0.81[ASN][1000 genomes]
rs7316073	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs7962283	0.84[CEU][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7964447	0.95[JPT][hapmap]
rs7965222	0.80[ASN][1000 genomes]
rs7966540	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7968837	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs7974928	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7979444	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1044049	chr12:39845078-39922808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1051709	chr12:39846990-39899051	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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