Variant report

Variant	rs12117075
Chromosome Location	chr1:210311800-210311801
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	chr1:210310049..210311976-chr1:210316997..210318625,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1002382	0.93[EUR][1000 genomes]
rs10779526	0.81[ASN][1000 genomes]
rs10863811	0.83[ASN][1000 genomes]
rs11119413	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11119414	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1387934	0.82[CHB][hapmap]
rs2046849	0.87[ASN][1000 genomes]
rs2130630	0.91[EUR][1000 genomes]
rs2200970	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs227221	0.82[CHB][hapmap]
rs2485893	0.81[ASN][1000 genomes]
rs2743891	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs4589109	0.91[EUR][1000 genomes]
rs4844508	0.91[EUR][1000 genomes]
rs4844948	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4844951	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4844952	0.93[EUR][1000 genomes]
rs7516554	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7529352	0.96[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs846559	0.82[CHB][hapmap];0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription 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	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv873145	chr1:210302595-210347417	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv468072	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv549104	chr1:210304319-210338196	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv549105	chr1:210304319-210338397	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12117075	IKBKE	cis	parietal	SCAN
rs12117075	SYT14	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210298400-210318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:210305400-210318400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210311400-210313600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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