Variant report

Variant	rs12323448
Chromosome Location	chr14:81042467-81042468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81033414..81035767-chr14:81040796..81044689,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10083541	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10133617	1.00[CEU][hapmap]
rs10134651	1.00[CEU][hapmap]
rs10137577	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137925	1.00[CEU][hapmap]
rs10140445	1.00[CEU][hapmap]
rs10143950	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10144134	1.00[CEU][hapmap]
rs10146558	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146613	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147253	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148198	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151108	1.00[CEU][hapmap]
rs10151668	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10162376	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162496	1.00[AMR][1000 genomes]
rs10220319	1.00[CEU][hapmap]
rs10220635	1.00[CEU][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847724	1.00[CEU][hapmap]
rs13379189	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1375628	1.00[CEU][hapmap]
rs162179	1.00[CEU][hapmap]
rs17110847	1.00[CEU][hapmap]
rs17110881	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111027	1.00[CEU][hapmap]
rs2197983	1.00[CEU][hapmap]
rs28376824	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452095	1.00[AMR][1000 genomes]
rs28464324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28603151	1.00[AMR][1000 genomes]
rs28753378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28825072	1.00[AMR][1000 genomes]
rs28887590	1.00[AMR][1000 genomes]
rs327436	1.00[CEU][hapmap]
rs327437	1.00[CEU][hapmap]
rs327468	1.00[CEU][hapmap]
rs4400984	1.00[AMR][1000 genomes]
rs55854538	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57574075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58018311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716483	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs74064209	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066003	0.94[AFR][1000 genomes];1.00[AMR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81029600-81044800	Weak transcription	Dnd41	blood
2	chr14:81037000-81051000	Weak transcription	NHEK	skin
3	chr14:81037200-81050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81037200-81050800	Weak transcription	HMEC	breast
5	chr14:81041400-81042800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:81041400-81046200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:81042000-81043000	Enhancers	A549	lung
8	chr14:81042400-81042800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr14:81042400-81043200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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