Variant report

Variant	rs12076837
Chromosome Location	chr1:166128960-166128961
allele	A/T
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	chr1:166128909-166129226	SH-SY5Y	brain:	n/a	chr1:166129021-166129029 chr1:166129138-166129149 chr1:166129019-166129032 chr1:166129089-166129099 chr1:166129084-166129100
2	GATA2	chr1:166127954-166129353	SH-SY5Y	brain:	n/a	chr1:166128231-166128242 chr1:166128251-166128267 chr1:166129021-166129029 chr1:166129138-166129149 chr1:166129019-166129032 chr1:166129089-166129099 chr1:166128251-166128267 chr1:166128254-166128264 chr1:166129084-166129100 chr1:166128235-166128244 chr1:166128256-166128273
3	EP300	chr1:166128955-166129192	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:166127362..166130632-chr1:166131122..166135211,3	K562	blood:
2	chr1:166127346..166129390-chr1:166139728..166141681,2	K562	blood:
3	chr1:166128277..166131609-chr1:166135442..166138684,3	K562	blood:

Variant related genes	Relation type
MIR921	TF binding region
ENSG00000230898	Chromatin interaction
ENSG00000188859	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10494453	0.93[EUR][1000 genomes]
rs10494455	0.94[EUR][1000 genomes]
rs10800198	0.94[EUR][1000 genomes]
rs10800199	0.92[EUR][1000 genomes]
rs10800200	0.91[EUR][1000 genomes]
rs10918369	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs10918381	0.91[EUR][1000 genomes]
rs10918383	0.92[EUR][1000 genomes]
rs10918384	0.92[EUR][1000 genomes]
rs10918385	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12023523	0.92[EUR][1000 genomes]
rs12031538	0.93[EUR][1000 genomes]
rs12126834	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12136704	0.93[EUR][1000 genomes]
rs12144426	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402371	0.92[EUR][1000 genomes]
rs12409766	0.92[EUR][1000 genomes]
rs12734750	0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs1432119	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1529642	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530889	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551179	0.88[EUR][1000 genomes]
rs1864791	0.92[EUR][1000 genomes]
rs2116519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074897	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4656481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656484	0.91[EUR][1000 genomes]
rs4656485	0.92[EUR][1000 genomes]
rs4657530	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426968	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6681924	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696964	0.93[EUR][1000 genomes]
rs6698285	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs6698973	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6700193	0.92[EUR][1000 genomes]
rs715421	0.93[EUR][1000 genomes]
rs724139	0.92[EUR][1000 genomes]
rs7513325	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs7548172	0.92[EUR][1000 genomes]
rs9787101	0.93[EUR][1000 genomes]
rs9787239	0.93[EUR][1000 genomes]
rs987131	0.82[YRI][hapmap]

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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166123800-166134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:166127200-166130400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:166127200-166134000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:166128400-166129600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:166128400-166134000	Weak transcription	Right Ventricle	heart
6	chr1:166128600-166129400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:166128800-166130800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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