Variant report

Variant	rs61990695
Chromosome Location	chr14:78257051-78257052
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1030151	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1030152	0.94[EUR][1000 genomes]
rs17106259	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17106364	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45519831	0.94[EUR][1000 genomes]
rs45611739	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899669	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4899671	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4899672	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4903628	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4903630	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4903633	0.89[EUR][1000 genomes]
rs57485881	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57654091	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58390480	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60228583	0.94[EUR][1000 genomes]
rs61435552	0.94[EUR][1000 genomes]
rs61990683	0.93[EUR][1000 genomes]
rs61990684	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990686	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990688	1.00[EUR][1000 genomes]
rs61990689	1.00[EUR][1000 genomes]
rs61990690	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990716	1.00[EUR][1000 genomes]
rs61990717	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990718	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990719	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990721	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990722	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61992865	0.80[EUR][1000 genomes]
rs61992869	0.80[EUR][1000 genomes]
rs61992870	0.85[AMR][1000 genomes]
rs61992912	0.83[EUR][1000 genomes]
rs61992917	0.83[EUR][1000 genomes]
rs61992919	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61992921	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61993669	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993672	0.93[EUR][1000 genomes]
rs6574390	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7143265	0.83[EUR][1000 genomes]
rs7143382	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7146446	1.00[EUR][1000 genomes]
rs7147748	0.83[EUR][1000 genomes]
rs7152638	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7156186	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156905	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7160307	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8007598	0.94[EUR][1000 genomes]
rs8014720	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8019064	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61990695	RPL21P10	cis	Artery Tibial	GTEx
rs61990695	RPL21P10	cis	Muscle Skeletal	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78253600-78260800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:78253600-78261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:78253800-78266200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78256600-78258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:78256600-78258000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:78256600-78258200	Enhancers	Placenta	Placenta
7	chr14:78256600-78258400	Enhancers	Hela-S3	cervix
8	chr14:78256800-78257400	Enhancers	Fetal Intestine Large	intestine
9	chr14:78256800-78258000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr14:78256800-78258000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:78256800-78258200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:78256800-78258200	Enhancers	NHEK	skin
13	chr14:78257000-78257200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:78257000-78258000	Enhancers	HMEC	breast
15	chr14:78257000-78258200	Enhancers	HepG2	liver

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