Variant report

Variant	rs59146679
Chromosome Location	chr2:57989836-57989837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:57989820-57989970	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:57988189..57989874-chr2:57990120..57992632,2	K562	blood:
2	chr2:57988184..57990505-chr2:57993308..57996155,2	K562	blood:

Variant related genes	Relation type
ENSG00000271615	TF binding region
ENSG00000271615	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12104766	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12105180	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1520963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049103	1.00[AMR][1000 genomes]
rs17049119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049169	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049195	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17049218	1.00[AMR][1000 genomes]
rs17049234	1.00[AMR][1000 genomes]
rs17049246	1.00[AMR][1000 genomes]
rs17049251	1.00[AMR][1000 genomes]
rs41507950	1.00[AMR][1000 genomes]
rs55811651	1.00[AMR][1000 genomes]
rs56193241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56199322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58333652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58838819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59163667	1.00[AMR][1000 genomes]
rs59235511	1.00[AMR][1000 genomes]
rs59691581	1.00[AMR][1000 genomes]
rs60453955	1.00[AMR][1000 genomes]
rs60462720	1.00[AMR][1000 genomes]
rs60765249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6751864	1.00[AMR][1000 genomes]
rs72939601	1.00[AMR][1000 genomes]
rs72941503	1.00[AMR][1000 genomes]
rs72941525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72941589	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943305	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943312	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943328	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943335	1.00[AMR][1000 genomes]
rs72943342	1.00[AMR][1000 genomes]
rs72943350	1.00[AMR][1000 genomes]
rs72943356	1.00[AMR][1000 genomes]
rs72943358	1.00[AMR][1000 genomes]
rs72943369	1.00[AMR][1000 genomes]
rs72943371	1.00[AMR][1000 genomes]
rs73941649	1.00[AMR][1000 genomes]
rs73942209	1.00[AMR][1000 genomes]
rs73942219	1.00[AMR][1000 genomes]
rs73944124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73944146	1.00[AMR][1000 genomes]
rs7572606	1.00[AMR][1000 genomes]
rs7600283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs952625	1.00[AMR][1000 genomes]
rs952626	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874197	chr2:57978858-58068741	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874198	chr2:57987593-58068741	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv979288	chr2:57989449-58001726	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57987400-58009800	Weak transcription	Pancreas	Pancrea
2	chr2:57987800-57994600	Weak transcription	Thymus	Thymus
3	chr2:57989400-57990000	Weak transcription	K562	blood

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