Variant report

Variant	rs28970013
Chromosome Location	chr2:234585749-234585750
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234577799..234579592-chr2:234583305..234585773,2	K562	blood:
2	chr2:234585462..234589750-chr2:234597767..234600526,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28505045	1.00[AMR][1000 genomes]
rs28898569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28898572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28898586	1.00[AMR][1000 genomes]
rs28898588	1.00[AMR][1000 genomes]
rs28898592	1.00[AMR][1000 genomes]
rs28898597	1.00[AMR][1000 genomes]
rs28898607	1.00[AMR][1000 genomes]
rs28898610	1.00[AMR][1000 genomes]
rs28899169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28899172	1.00[AMR][1000 genomes]
rs28899180	1.00[AMR][1000 genomes]
rs28899184	1.00[AMR][1000 genomes]
rs28899185	1.00[AMR][1000 genomes]
rs28969714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45497792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45594938	1.00[AMR][1000 genomes]
rs45617840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45618133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735370	1.00[AMR][1000 genomes]
rs6746419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3340677	chr2:234580879-234591324	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234585400-234588000	Weak transcription	A549	lung
4	chr2:234585600-234589000	Weak transcription	Liver	Liver

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