Variant report

Variant	rs28986298
Chromosome Location	chr6:29548644-29548645
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	CEBPB	chr6:29548640-29548938	HepG2	liver:	n/a	chr6:29548797-29548808
2	POLR2A	chr6:29548245-29549410	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr6:29548453-29549307	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29542932..29546952-chr6:29547558..29549945,4	K562	blood:

Variant related genes	Relation type
RPL13AP	TF binding region
SNORD32B	TF binding region
ENSG00000227609	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12524535	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525400	0.83[EUR][1000 genomes]
rs12528017	0.83[EUR][1000 genomes]
rs12530421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28749531	0.86[ASN][1000 genomes]
rs28893512	0.83[EUR][1000 genomes]
rs28893514	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28893515	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28893516	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28893517	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28986296	0.83[EUR][1000 genomes]
rs28986297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28986299	0.80[EUR][1000 genomes]
rs28986300	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28986301	0.85[EUR][1000 genomes]
rs28986303	0.93[EUR][1000 genomes]
rs28986306	0.93[EUR][1000 genomes]
rs28986307	0.90[EUR][1000 genomes]
rs29255	0.83[EUR][1000 genomes]
rs3025645	0.90[EUR][1000 genomes]
rs3025646	0.93[EUR][1000 genomes]
rs3025649	0.83[EUR][1000 genomes]
rs362521	0.85[EUR][1000 genomes]
rs41286283	0.83[EUR][1000 genomes]
rs41286287	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription 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
3	nsv5239	chr6:29527407-29566446	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3451744	chr6:29542163-29556350	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2504304	chr6:29544264-29553307	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv522325	chr6:29544825-29550618	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2302804	chr6:29544833-29552951	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527592	chr6:29545715-29550618	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	nsv519288	chr6:29545715-29559295	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 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	chr6:29541200-29553200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:29545400-29549800	Weak transcription	Spleen	Spleen
3	chr6:29546200-29569400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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