Variant report

Variant	rs72689070
Chromosome Location	chr14:81050678-81050679
allele	C/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	EP300	chr14:81050650-81052173	SK-N-SH	brain:	n/a	chr14:81051755-81051764 chr14:81050963-81050977 chr14:81051740-81051750 chr14:81051009-81051019

Variant related genes	Relation type
CEP128	TF binding region

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

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

rs_ID	r²[population]
rs12434405	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12434618	0.87[EUR][1000 genomes]
rs12435900	0.96[AFR][1000 genomes]
rs17110752	0.87[EUR][1000 genomes]
rs17110796	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17110799	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17110803	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17110815	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17110880	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2122429	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56341421	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58877537	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7160951	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72689053	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72689058	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72689071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72689095	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8008191	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8013010	0.82[EUR][1000 genomes]
rs8017017	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017133	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017609	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8017722	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81037000-81051000	Weak transcription	NHEK	skin
2	chr14:81037200-81050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:81037200-81050800	Weak transcription	HMEC	breast
4	chr14:81046400-81053600	Weak transcription	Thymus	Thymus
5	chr14:81046600-81053600	Weak transcription	Dnd41	blood
6	chr14:81049600-81052800	Enhancers	Hela-S3	cervix
7	chr14:81050600-81051000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:81050600-81051000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:81050600-81051000	Enhancers	Gastric	stomach
10	chr14:81050600-81051800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:81050600-81052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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