Variant report

Variant	rs12043280
Chromosome Location	chr1:153417468-153417469
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153407654..153409258-chr1:153416471..153419018,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10127752	0.83[ASN][1000 genomes]
rs10888560	0.83[CHD][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11205297	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];0.97[ASN][1000 genomes]
rs12022550	0.89[JPT][hapmap]
rs12025638	1.00[ASW][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap]
rs12034788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12036701	0.83[ASN][1000 genomes]
rs12043556	0.92[CHB][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12044034	0.82[ASN][1000 genomes]
rs12044491	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12047494	0.89[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs12217109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16835308	0.88[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16835332	1.00[ASW][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap]
rs2986209	0.89[JPT][hapmap]
rs3006414	0.88[GIH][hapmap]
rs3006423	0.88[GIH][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs3014818	0.88[GIH][hapmap]
rs3014822	0.88[GIH][hapmap];0.84[MEX][hapmap];0.83[ASN][1000 genomes]
rs3014823	0.88[GIH][hapmap];0.83[ASN][1000 genomes]
rs3014848	0.88[JPT][hapmap]
rs41265152	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507965	0.83[ASN][1000 genomes]
rs55668683	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55703007	0.82[ASN][1000 genomes]
rs56009204	0.84[ASN][1000 genomes]
rs72708746	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	esv33204	chr1:153410510-153418995	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12043280	RAB13	cis	cerebellum	SCAN
rs12043280	LCE3D	cis	parietal	SCAN
rs12043280	S100A7A	cis	cerebellum	SCAN
rs12043280	ILF2	cis	parietal	SCAN
rs12043280	LCE5A	cis	cerebellum	SCAN
rs12043280	HORMAD1	cis	cerebellum	SCAN

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

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