Variant report

Variant	rs17111270
Chromosome Location	chr14:81413039-81413040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10136404	0.96[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10145099	0.80[EUR][1000 genomes]
rs1016507	0.81[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs1016699	0.81[YRI][hapmap]
rs1025253	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1035144	0.86[JPT][hapmap]
rs11623416	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627019	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11627929	0.86[ASN][1000 genomes]
rs12050416	0.82[YRI][hapmap]
rs12431821	0.80[CEU][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap]
rs12432357	0.85[EUR][1000 genomes]
rs12434564	0.86[EUR][1000 genomes]
rs12878945	0.90[JPT][hapmap]
rs12888082	0.81[CEU][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs12891585	0.86[JPT][hapmap]
rs12892825	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12895801	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1458993	0.81[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs172920	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17542615	0.81[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs17542712	0.90[JPT][hapmap]
rs17613911	0.80[TSI][hapmap]
rs17614081	0.95[JPT][hapmap]
rs179262	0.84[EUR][1000 genomes]
rs179263	0.84[EUR][1000 genomes]
rs1797670	0.85[EUR][1000 genomes]
rs2044738	0.85[EUR][1000 genomes]
rs2114703	0.92[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2162548	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2215981	0.88[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs2217174	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2217176	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs228110	0.86[EUR][1000 genomes]
rs228111	0.87[EUR][1000 genomes]
rs228118	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228120	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228121	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs228125	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2284726	0.80[EUR][1000 genomes]
rs2371416	0.94[JPT][hapmap]
rs2371457	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2371462	0.84[CEU][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2556601	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2556605	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2590480	0.80[TSI][hapmap]
rs2888046	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35540104	0.86[EUR][1000 genomes]
rs3742721	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742722	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783948	0.82[EUR][1000 genomes]
rs4411444	0.86[JPT][hapmap]
rs4523859	0.81[CEU][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap]
rs4899782	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899783	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903948	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4903954	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6574605	0.81[TSI][hapmap]
rs6574613	0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67065081	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141130	0.81[EUR][1000 genomes]
rs7141434	0.81[TSI][hapmap]
rs71416852	0.80[EUR][1000 genomes]
rs7143407	0.86[EUR][1000 genomes]
rs7143744	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148368	0.85[JPT][hapmap]
rs7148618	0.80[CEU][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs7150858	0.85[JPT][hapmap]
rs7153979	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7154132	0.82[CHB][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7154373	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157845	0.82[YRI][hapmap]
rs722906	0.82[YRI][hapmap]
rs728444	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs759916	0.81[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs759917	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003784	0.86[EUR][1000 genomes]
rs8005883	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8006507	0.86[EUR][1000 genomes]
rs8006864	0.81[EUR][1000 genomes]
rs8009120	0.84[CEU][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8009260	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8016507	0.82[YRI][hapmap]
rs8021137	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8022411	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][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	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17111270	C14orf145	cis	cerebellum	SCAN
rs17111270	C14orf145	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81408800-81414200	Weak transcription	Liver	Liver
2	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:81409000-81414000	Weak transcription	Thymus	Thymus
4	chr14:81409200-81415400	Weak transcription	Placenta	Placenta
5	chr14:81410200-81420000	Weak transcription	Dnd41	blood
6	chr14:81411400-81413600	Enhancers	HMEC	breast
7	chr14:81411800-81413200	Enhancers	NHEK	skin
8	chr14:81411800-81416800	Strong transcription	Fetal Thymus	thymus
9	chr14:81412400-81414800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:81412600-81415200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81412600-81421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:81413000-81413200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links