Variant report

Variant	rs12021643
Chromosome Location	chr1:165685150-165685151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165600176..165602147-chr1:165685075..165687323,2	MCF-7	breast:
2	chr1:165684207..165686367-chr1:165693698..165695940,2	K562	blood:

Variant related genes	Relation type
ENSG00000143198	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10800139	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap];0.97[EUR][1000 genomes]
rs10800147	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800148	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800150	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918258	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918265	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12021678	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12027066	0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs12044709	0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs12069379	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12143900	0.92[EUR][1000 genomes]
rs3753894	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs4582768	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[EUR][1000 genomes]
rs6699874	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[YRI][hapmap];0.97[EUR][1000 genomes]
rs72698092	0.89[ASN][1000 genomes]
rs72698094	0.89[ASN][1000 genomes]
rs72698097	0.90[ASN][1000 genomes]
rs73016601	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7514969	0.97[EUR][1000 genomes]
rs7537774	0.90[ASN][1000 genomes]
rs7549418	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549509	0.91[EUR][1000 genomes]
rs9725173	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr1:165684400-165685200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:165684400-165687600	Enhancers	Liver	Liver
3	chr1:165684600-165685200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165684600-165685200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:165684600-165685200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:165684600-165685400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:165684800-165685600	Enhancers	Cortex derived primary cultured neurospheres	brain

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