Variant report

Variant	rs883116
Chromosome Location	chr1:224807973-224807974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224797935..224800597-chr1:224806842..224809051,3	MCF-7	breast:
2	chr1:224802908..224805132-chr1:224806672..224808606,2	MCF-7	breast:
3	chr1:224803029..224804749-chr1:224807138..224809873,2	K562	blood:
4	chr1:224806254..224809054-chr1:224817462..224819155,2	K562	blood:

Variant related genes	Relation type
ENSG00000233384	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1036431	0.81[CEU][hapmap]
rs10915691	0.81[CEU][hapmap]
rs10915693	0.81[CEU][hapmap]
rs10915695	0.81[CEU][hapmap]
rs1106233	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12060334	0.81[CEU][hapmap]
rs12065840	0.81[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12077707	0.90[CEU][hapmap];0.82[CHB][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12079156	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12088524	0.81[CEU][hapmap]
rs12089565	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12091093	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12092532	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12096245	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12565092	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1337538	0.90[CEU][hapmap]
rs1499289	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1499291	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1499293	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1499294	0.89[YRI][hapmap]
rs1532557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850786	0.81[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1985338	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4363402	0.81[CEU][hapmap]
rs58725094	0.89[EUR][1000 genomes]
rs60500269	0.89[EUR][1000 genomes]
rs61827075	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61827076	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6426147	0.81[CEU][hapmap]
rs6695864	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73115953	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73115958	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7415393	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7554310	0.81[CEU][hapmap]
rs969025	0.91[AMR][1000 genomes];0.91[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224805400-224808000	Flanking Active TSS	Dnd41	blood
2	chr1:224805800-224812200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224806000-224808800	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr1:224806000-224811800	Weak transcription	Spleen	Spleen
5	chr1:224806200-224808000	Active TSS	NHLF	lung
6	chr1:224806200-224810400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224806200-224810400	Weak transcription	Pancreas	Pancrea
8	chr1:224806600-224812800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224806600-224813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:224807000-224809200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:224807000-224810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:224807200-224808000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:224807400-224808000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
14	chr1:224807400-224808800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:224807400-224809800	Weak transcription	HMEC	breast
16	chr1:224807800-224808000	Flanking Active TSS	NH-A	brain

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