Variant report

Variant	rs13401703
Chromosome Location	chr2:234477460-234477461
allele	A/G
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	GATA3	chr2:234477406-234477556	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234475954..234478927-chr2:234479708..234482579,2	MCF-7	breast:
2	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
3	chr2:234472403..234474529-chr2:234475981..234478934,2	MCF-7	breast:
4	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:

Variant related genes	Relation type
USP40	TF binding region
ENSG00000085982	Chromatin interaction
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10182818	1.00[EUR][1000 genomes]
rs10190816	0.83[AMR][1000 genomes]
rs13389374	1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	1.00[EUR][1000 genomes]
rs13403667	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28898571	1.00[EUR][1000 genomes]
rs28898573	1.00[EUR][1000 genomes]
rs28898598	1.00[EUR][1000 genomes]
rs28900378	1.00[EUR][1000 genomes]
rs28900380	1.00[EUR][1000 genomes]
rs28900396	1.00[EUR][1000 genomes]
rs28968515	1.00[EUR][1000 genomes]
rs28969703	1.00[EUR][1000 genomes]
rs28969712	1.00[EUR][1000 genomes]
rs28969974	1.00[EUR][1000 genomes]
rs28970005	1.00[EUR][1000 genomes]
rs28970006	1.00[EUR][1000 genomes]
rs28970014	1.00[EUR][1000 genomes]
rs28970015	1.00[EUR][1000 genomes]
rs34652311	1.00[EUR][1000 genomes]
rs45498701	1.00[EUR][1000 genomes]
rs45505392	1.00[EUR][1000 genomes]
rs45548336	1.00[EUR][1000 genomes]
rs45568235	1.00[EUR][1000 genomes]
rs72982319	1.00[ASN][1000 genomes]
rs73121108	1.00[EUR][1000 genomes]
rs73123128	1.00[EUR][1000 genomes]
rs73123133	1.00[EUR][1000 genomes]
rs73123137	1.00[EUR][1000 genomes]
rs73123148	1.00[EUR][1000 genomes]
rs73123150	1.00[EUR][1000 genomes]
rs73997634	1.00[ASN][1000 genomes]
rs7562752	1.00[ASN][1000 genomes]
rs7583222	1.00[ASN][1000 genomes]
rs7583771	1.00[ASN][1000 genomes]
rs7585381	1.00[ASN][1000 genomes]
rs7587535	1.00[ASN][1000 genomes]
rs7591924	1.00[ASN][1000 genomes]
rs7594222	1.00[EUR][1000 genomes]
rs7603904	1.00[ASN][1000 genomes]
rs7606838	1.00[ASN][1000 genomes]
rs9287602	1.00[EUR][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	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	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	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
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv3354779	chr2:234474774-234478122	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3388163	chr2:234474849-234477847	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3514380	chr2:234475056-234477535	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
8	esv2594574	chr2:234475591-234477600	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234475400-234478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234475600-234480000	Weak transcription	A549	lung
3	chr2:234477200-234477600	Enhancers	K562	blood
4	chr2:234477200-234477800	Enhancers	Ovary	ovary

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