Variant report

Variant	rs12540967
Chromosome Location	chr8:95589090-95589091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95588836..95591619-chr8:95651805..95654263,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10104041	0.98[ASN][1000 genomes]
rs10111287	0.97[ASN][1000 genomes]
rs1023767	0.96[ASN][1000 genomes]
rs1048029	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1055800	0.97[ASN][1000 genomes]
rs10956915	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10956919	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986009	0.98[ASN][1000 genomes]
rs11992893	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11998578	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12541408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543207	0.92[ASN][1000 genomes]
rs12543730	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549596	0.85[EUR][1000 genomes]
rs12678305	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12679345	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12679785	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12680842	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680965	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12681564	0.94[ASN][1000 genomes]
rs13258635	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1426172	0.86[EUR][1000 genomes]
rs1470153	0.97[ASN][1000 genomes]
rs16916874	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16916881	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1808488	0.86[EUR][1000 genomes]
rs1984711	0.88[EUR][1000 genomes]
rs1992370	0.97[ASN][1000 genomes]
rs2304764	0.91[ASN][1000 genomes]
rs2381882	0.97[ASN][1000 genomes]
rs2381885	0.94[ASN][1000 genomes]
rs28729295	0.98[ASN][1000 genomes]
rs28817653	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34471170	0.87[EUR][1000 genomes]
rs4366055	0.94[ASN][1000 genomes]
rs4373498	0.97[ASN][1000 genomes]
rs4734282	0.83[EUR][1000 genomes]
rs4735297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735302	0.83[EUR][1000 genomes]
rs55897841	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56042558	0.97[ASN][1000 genomes]
rs56302978	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56716157	0.84[ASN][1000 genomes]
rs60655325	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72674832	0.92[ASN][1000 genomes]
rs72674843	0.97[ASN][1000 genomes]
rs72674852	0.97[ASN][1000 genomes]
rs72674855	0.97[ASN][1000 genomes]
rs72674861	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72674866	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72674867	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72674877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674881	0.86[EUR][1000 genomes]
rs7829886	0.92[ASN][1000 genomes]
rs957447	0.97[ASN][1000 genomes]
rs957448	0.97[ASN][1000 genomes]
rs9642927	0.87[EUR][1000 genomes]
rs9642928	0.87[EUR][1000 genomes]
rs9643346	0.86[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12540967	KIAA1429	Cis_1M	lymphoblastoid	RTeQTL

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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