Variant report

Variant	rs7323723
Chromosome Location	chr13:51765367-51765368
allele	A/C
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	GATA2	chr13:51764990-51765651	SH-SY5Y	brain:	n/a	chr13:51765222-51765232 chr13:51765221-51765233 chr13:51765559-51765569 chr13:51765221-51765234 chr13:51765223-51765230 chr13:51765223-51765232 chr13:51765445-51765455

Variant related genes	Relation type
SLMO2P2	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11838593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11841027	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11841154	1.00[EUR][1000 genomes]
rs11843433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11843804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11843842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1475378	1.00[EUR][1000 genomes]
rs57011760	1.00[EUR][1000 genomes]
rs57325570	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57546351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57856090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57873646	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58004754	1.00[EUR][1000 genomes]
rs58286739	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58791839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58955860	1.00[EUR][1000 genomes]
rs59146135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59439755	1.00[EUR][1000 genomes]
rs59488627	1.00[EUR][1000 genomes]
rs59816449	1.00[EUR][1000 genomes]
rs61016784	1.00[EUR][1000 genomes]
rs61041802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61075891	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61098166	0.88[AFR][1000 genomes]
rs61520022	1.00[EUR][1000 genomes]
rs61539526	1.00[EUR][1000 genomes]
rs7317441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323479	1.00[EUR][1000 genomes]
rs7324083	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7333250	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73488042	1.00[EUR][1000 genomes]
rs73488047	1.00[EUR][1000 genomes]
rs73488050	1.00[EUR][1000 genomes]
rs73488064	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73488066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488070	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73488073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488076	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73488080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488091	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73488094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73488097	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490136	1.00[EUR][1000 genomes]
rs73490138	1.00[EUR][1000 genomes]
rs73490144	1.00[EUR][1000 genomes]
rs73490186	1.00[EUR][1000 genomes]
rs73490189	1.00[EUR][1000 genomes]
rs73490197	1.00[EUR][1000 genomes]
rs73492203	1.00[EUR][1000 genomes]
rs7994215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7997296	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7997385	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9316538	1.00[EUR][1000 genomes]
rs9596451	1.00[EUR][1000 genomes]
rs9596500	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523778	chr13:51755107-51768501	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51750200-51767000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:51754000-51766000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:51754600-51770000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:51755000-51765600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:51759000-51767800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:51761800-51766200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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