Variant report

Variant	rs73490138
Chromosome Location	chr13:51795020-51795021
allele	C/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	chr13:51794947-51795201	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr13:51794850-51795236	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:51793406..51795432-chr13:51797315..51800295,2	K562	blood:
2	chr13:51785516..51788256-chr13:51793082..51795168,2	MCF-7	breast:
3	chr13:51792474..51795123-chr13:51810834..51812856,2	MCF-7	breast:

Variant related genes	Relation type
FAM124A	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	1.00[EUR][1000 genomes]
rs11841027	1.00[EUR][1000 genomes]
rs11841154	1.00[EUR][1000 genomes]
rs11843842	1.00[EUR][1000 genomes]
rs1475378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011760	1.00[EUR][1000 genomes]
rs57325570	1.00[EUR][1000 genomes]
rs57546351	1.00[EUR][1000 genomes]
rs57856090	1.00[EUR][1000 genomes]
rs57873646	1.00[EUR][1000 genomes]
rs58004754	1.00[EUR][1000 genomes]
rs58286739	1.00[EUR][1000 genomes]
rs58791839	1.00[EUR][1000 genomes]
rs58955860	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59146135	1.00[EUR][1000 genomes]
rs59439755	1.00[EUR][1000 genomes]
rs59488627	1.00[EUR][1000 genomes]
rs59816449	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61016784	1.00[EUR][1000 genomes]
rs61041802	1.00[EUR][1000 genomes]
rs61075891	1.00[EUR][1000 genomes]
rs61520022	1.00[EUR][1000 genomes]
rs61539526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317441	1.00[EUR][1000 genomes]
rs7323479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323723	1.00[EUR][1000 genomes]
rs7324083	1.00[EUR][1000 genomes]
rs7333250	1.00[EUR][1000 genomes]
rs73488042	1.00[EUR][1000 genomes]
rs73488047	1.00[EUR][1000 genomes]
rs73488050	1.00[EUR][1000 genomes]
rs73488064	1.00[EUR][1000 genomes]
rs73488066	1.00[EUR][1000 genomes]
rs73488070	1.00[EUR][1000 genomes]
rs73488072	0.82[AFR][1000 genomes]
rs73488073	1.00[EUR][1000 genomes]
rs73488076	1.00[EUR][1000 genomes]
rs73488091	1.00[EUR][1000 genomes]
rs73488094	1.00[EUR][1000 genomes]
rs73488097	1.00[EUR][1000 genomes]
rs73490136	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490160	1.00[AMR][1000 genomes]
rs73490161	1.00[AMR][1000 genomes]
rs73490165	1.00[AMR][1000 genomes]
rs73490186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7994215	1.00[EUR][1000 genomes]
rs7997296	1.00[EUR][1000 genomes]
rs7997385	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	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51786400-51795600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:51787800-51795400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:51790800-51795400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:51790800-51795600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:51792800-51795800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:51793200-51795200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:51793800-51795400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr13:51794400-51795200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr13:51794400-51795600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr13:51794800-51795600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr13:51794800-51795800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:51795000-51795200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr13:51795000-51795600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr13:51795000-51795600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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