Variant report

Variant	rs2009924
Chromosome Location	chr12:66906170-66906171
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	chr12:66905511..66907339-chr12:66908597..66911172,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11176256	1.00[AMR][1000 genomes]
rs11176257	1.00[AMR][1000 genomes]
rs11176295	1.00[AMR][1000 genomes]
rs11176296	1.00[AMR][1000 genomes]
rs11504204	1.00[AMR][1000 genomes]
rs12297649	1.00[AMR][1000 genomes]
rs12309622	1.00[AMR][1000 genomes]
rs12309778	1.00[AMR][1000 genomes]
rs12309896	1.00[AMR][1000 genomes]
rs12311664	1.00[AMR][1000 genomes]
rs12313212	1.00[AMR][1000 genomes]
rs12319060	1.00[AMR][1000 genomes]
rs12319603	1.00[AMR][1000 genomes]
rs12321077	1.00[AMR][1000 genomes]
rs12321492	1.00[AMR][1000 genomes]
rs12321495	1.00[AMR][1000 genomes]
rs12321549	1.00[AMR][1000 genomes]
rs13377630	1.00[AMR][1000 genomes]
rs13377875	1.00[AMR][1000 genomes]
rs13378006	1.00[AMR][1000 genomes]
rs17102568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1813738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1908122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57630867	1.00[AMR][1000 genomes]
rs58011515	1.00[AMR][1000 genomes]
rs58314154	1.00[AMR][1000 genomes]
rs58520471	1.00[AMR][1000 genomes]
rs59000682	1.00[AMR][1000 genomes]
rs59253853	1.00[AMR][1000 genomes]
rs60150269	1.00[AMR][1000 genomes]
rs60436125	1.00[AMR][1000 genomes]
rs60605218	1.00[AMR][1000 genomes]
rs60935597	1.00[AMR][1000 genomes]
rs61448698	1.00[AMR][1000 genomes]
rs7974745	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974896	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv33058	chr12:66895409-66911162	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv8985	chr12:66905338-66906752	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2757508	chr12:66905405-66980180	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2759906	chr12:66905405-66980180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66890600-66909200	Weak transcription	Pancreas	Pancrea
2	chr12:66897600-66912600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:66900400-66908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:66900600-66909800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:66902200-66910200	Weak transcription	HMEC	breast
6	chr12:66902600-66909600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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