Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13000120	0.90[EUR][1000 genomes]
rs13005723	0.90[EUR][1000 genomes]
rs13006104	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13011362	0.90[EUR][1000 genomes]
rs13033894	0.89[EUR][1000 genomes]
rs17046343	0.96[EUR][1000 genomes]
rs17417134	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17417259	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1816376	0.96[EUR][1000 genomes]
rs34049612	0.90[EUR][1000 genomes]
rs34170608	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34389776	0.97[EUR][1000 genomes]
rs35457818	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56113416	0.90[EUR][1000 genomes]
rs66921272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6705883	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67248043	0.89[EUR][1000 genomes]
rs67607054	0.90[EUR][1000 genomes]
rs72806702	0.87[EUR][1000 genomes]
rs72808606	0.89[EUR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv870295	chr2:55008613-55065985	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874152	chr2:55023600-55060479	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17046380	C2orf63	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55036600-55047200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:55037200-55041600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:55040600-55043400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:55040800-55041600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:55040800-55041800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:55040800-55042200	Flanking Active TSS	HMEC	breast
7	chr2:55041000-55042600	Flanking Active TSS	NHEK	skin
8	chr2:55041000-55044000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:55041200-55041600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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