Variant report

Variant	rs72750116
Chromosome Location	chr5:52837265-52837266
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	chr5:52836956..52838872-chr5:52840887..52843608,2	K562	blood:
2	chr5:52836609..52838398-chr5:52854843..52856746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164258	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10036010	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1593053	0.94[ASN][1000 genomes]
rs28515477	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28708487	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28736800	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35204933	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56129546	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72748120	0.88[ASN][1000 genomes]
rs72748123	0.83[ASN][1000 genomes]
rs72748124	0.88[ASN][1000 genomes]
rs72748126	0.94[ASN][1000 genomes]
rs72748128	0.94[ASN][1000 genomes]
rs72748131	0.94[ASN][1000 genomes]
rs72750104	0.94[ASN][1000 genomes]
rs72750115	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750118	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750119	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750122	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750123	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750126	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750127	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750130	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750131	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750134	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750140	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750144	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750148	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751827	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751841	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751844	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751846	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751847	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751863	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751866	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751867	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751871	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753636	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753638	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753639	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753641	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753648	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753652	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753656	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753660	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753662	0.88[EUR][1000 genomes]
rs72753664	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753670	0.93[ASN][1000 genomes]
rs72753671	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753677	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753682	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753684	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753688	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753689	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753691	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72755368	0.88[EUR][1000 genomes]
rs72755378	0.88[EUR][1000 genomes]
rs72755379	0.81[EUR][1000 genomes]
rs72755392	0.88[EUR][1000 genomes]
rs72755393	0.84[EUR][1000 genomes]
rs72757303	0.84[EUR][1000 genomes]
rs72757306	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:52835400-52838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:52835600-52838800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:52836200-52839000	Weak transcription	HSMM	muscle

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