Variant report

Variant	rs8009120
Chromosome Location	chr14:81417218-81417219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81405781..81407858-chr14:81414654..81417606,2	K562	blood:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10136404	0.88[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10145099	0.85[EUR][1000 genomes]
rs1016507	0.82[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1025253	0.84[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1035144	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs11159479	0.84[EUR][1000 genomes]
rs11623416	0.85[CEU][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs11627019	0.81[EUR][1000 genomes]
rs12431821	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs12432357	0.81[EUR][1000 genomes]
rs12434564	0.82[EUR][1000 genomes]
rs12878945	0.84[JPT][hapmap]
rs12888082	0.81[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs12891585	0.80[JPT][hapmap]
rs12892825	0.83[EUR][1000 genomes]
rs12895801	0.85[CEU][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes]
rs1458993	0.82[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17111270	0.84[CEU][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs172920	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17542615	0.82[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs17542712	0.85[JPT][hapmap]
rs17613911	0.80[JPT][hapmap]
rs17614081	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs179246	0.85[ASN][1000 genomes]
rs179247	0.83[ASN][1000 genomes]
rs179248	0.83[ASN][1000 genomes]
rs179262	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs179263	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1797670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2044738	0.80[EUR][1000 genomes]
rs2114703	0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs2162548	0.83[EUR][1000 genomes]
rs2215981	0.82[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs2217174	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2217176	0.84[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs228110	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228111	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs228118	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228120	0.81[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228121	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs228125	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2284726	0.85[EUR][1000 genomes]
rs2371416	0.89[JPT][hapmap]
rs2371457	0.85[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2371462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2556601	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2556605	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2888046	0.83[EUR][1000 genomes]
rs35540104	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3742721	0.83[EUR][1000 genomes]
rs3742722	0.83[EUR][1000 genomes]
rs3783948	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4411444	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs4523859	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs4899782	0.85[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4899783	0.93[EUR][1000 genomes]
rs4903948	0.84[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4903954	0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs56389234	0.83[EUR][1000 genomes]
rs6574613	0.84[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6574617	0.84[EUR][1000 genomes]
rs67065081	0.94[EUR][1000 genomes]
rs7141434	0.80[JPT][hapmap]
rs7143407	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7143744	0.82[EUR][1000 genomes]
rs7148618	0.81[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7153979	0.82[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7154132	0.84[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7154373	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs728444	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs759916	0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs759917	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8003515	0.83[JPT][hapmap]
rs8003784	0.82[EUR][1000 genomes]
rs8005883	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8006507	0.82[EUR][1000 genomes]
rs8009260	0.84[EUR][1000 genomes]
rs8016601	0.87[CEU][hapmap]
rs8021137	0.82[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8022411	0.85[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.88[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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:81410200-81420000	Weak transcription	Dnd41	blood
3	chr14:81412600-81421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:81415000-81421000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:81415600-81421000	Weak transcription	NHEK	skin
6	chr14:81415600-81421200	Weak transcription	Gastric	stomach
7	chr14:81415600-81421400	Weak transcription	Placenta	Placenta
8	chr14:81415800-81421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81415800-81421000	Weak transcription	Thymus	Thymus
10	chr14:81415800-81421000	Weak transcription	HMEC	breast
11	chr14:81416800-81421000	Weak transcription	Fetal Thymus	thymus

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