Variant report

Variant	rs716483
Chromosome Location	chr14:81126729-81126730
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81120693..81123298-chr14:81125309..81128150,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10083541	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133617	1.00[CEU][hapmap]
rs10134279	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10134651	1.00[CEU][hapmap]
rs10137577	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10137925	1.00[CEU][hapmap]
rs10140445	1.00[CEU][hapmap]
rs10140767	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143950	1.00[CEU][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144134	1.00[CEU][hapmap]
rs10146558	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10146613	1.00[AMR][1000 genomes]
rs10147253	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10147896	1.00[AMR][1000 genomes]
rs10148198	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10149913	1.00[AMR][1000 genomes]
rs10150034	1.00[CEU][hapmap]
rs10151027	1.00[CEU][hapmap]
rs10151108	1.00[CEU][hapmap]
rs10151668	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162376	1.00[AMR][1000 genomes]
rs10162496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220319	1.00[CEU][hapmap]
rs10220494	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs10220567	1.00[AMR][1000 genomes]
rs10220635	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs11847724	1.00[CEU][hapmap]
rs12323448	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs13379189	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs1375628	1.00[CEU][hapmap]
rs162173	1.00[CEU][hapmap]
rs162179	1.00[CEU][hapmap]
rs17110847	1.00[CEU][hapmap]
rs17110881	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17111027	1.00[CEU][hapmap]
rs2197983	1.00[CEU][hapmap]
rs28376824	1.00[AMR][1000 genomes]
rs28452095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28464324	1.00[AMR][1000 genomes]
rs28603151	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28753378	1.00[AMR][1000 genomes]
rs28825072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28887590	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327432	1.00[CEU][hapmap]
rs327436	1.00[CEU][hapmap]
rs327437	1.00[CEU][hapmap]
rs327468	1.00[CEU][hapmap]
rs370473	1.00[CEU][hapmap]
rs4400984	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55854538	1.00[AMR][1000 genomes]
rs57574075	1.00[AMR][1000 genomes]
rs58018311	1.00[AMR][1000 genomes]
rs7155765	1.00[CEU][hapmap]
rs74064209	1.00[AMR][1000 genomes]
rs74066003	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1039554	chr14:81113167-81156335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1051964	chr14:81113167-81156847	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv974475	chr14:81125843-81129360	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81106200-81135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81108200-81145800	Weak transcription	Fetal Thymus	thymus
3	chr14:81120800-81130600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:81122600-81129400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:81124600-81133000	Enhancers	Dnd41	blood
6	chr14:81125400-81129600	Weak transcription	Brain Anterior Caudate	brain
7	chr14:81125600-81127400	Weak transcription	Brain Germinal Matrix	brain
8	chr14:81125800-81129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:81125800-81129800	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:81125800-81129800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:81126000-81128200	Weak transcription	Brain Substantia Nigra	brain
12	chr14:81126000-81129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:81126400-81130600	Weak transcription	HepG2	liver

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