Variant report

Variant	rs17780806
Chromosome Location	chr8:10975629-10975630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087081	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10105315	1.00[CHB][hapmap]
rs10105377	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10108618	1.00[CHB][hapmap]
rs10113808	1.00[CHB][hapmap]
rs10503413	1.00[JPT][hapmap]
rs1057625	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1057626	0.89[ASN][1000 genomes]
rs11250117	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11773990	1.00[CHB][hapmap]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778121	1.00[JPT][hapmap]
rs11778398	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11991118	1.00[CHB][hapmap]
rs11991716	1.00[CHB][hapmap]
rs13256092	1.00[JPT][hapmap]
rs17152884	1.00[JPT][hapmap]
rs17152953	1.00[JPT][hapmap]
rs17724226	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2001433	1.00[CHB][hapmap]
rs2409689	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409694	1.00[CHB][hapmap]
rs2409720	1.00[CHB][hapmap]
rs2409728	1.00[JPT][hapmap]
rs28417109	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2898257	1.00[CHB][hapmap]
rs2898260	1.00[CHB][hapmap]
rs34772085	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3736014	1.00[JPT][hapmap]
rs3736015	1.00[JPT][hapmap]
rs4840542	1.00[CHB][hapmap]
rs4840551	1.00[CHB][hapmap]
rs4841489	1.00[CHB][hapmap]
rs4841490	1.00[CHB][hapmap]
rs60921132	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6601560	1.00[CHB][hapmap]
rs6601561	1.00[JPT][hapmap]
rs6601562	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs6601563	1.00[JPT][hapmap]
rs6980856	1.00[CHB][hapmap]
rs6981201	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6991930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6995204	0.82[EUR][1000 genomes]
rs7000695	1.00[JPT][hapmap]
rs7008658	1.00[JPT][hapmap]
rs7010256	1.00[JPT][hapmap]
rs7460507	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7819338	1.00[JPT][hapmap]
rs7825690	1.00[CHB][hapmap]
rs7832722	1.00[JPT][hapmap]
rs7834295	1.00[JPT][hapmap]
rs7840926	1.00[JPT][hapmap]
rs7842261	1.00[JPT][hapmap]
rs7845493	1.00[JPT][hapmap]
rs9657519	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1027845	chr8:10959666-10995565	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17780806	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs17780806	AF131215.2	cis	Stomach	GTEx
rs17780806	C8orf5	cis	normal skin	skin_eQTL
rs17780806	AF131215.9	cis	Esophagus Mucosa	GTEx
rs17780806	AF131215.2	cis	Nerve Tibial	GTEx
rs17780806	AF131215.9	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10963000-10981200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:10965800-10981600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:10966200-10981400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:10972000-10975800	Weak transcription	Left Ventricle	heart
7	chr8:10972000-10977400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:10974200-10975800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:10974200-10975800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:10975000-10981000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:10975000-10981200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:10975200-10979400	Weak transcription	GM12878-XiMat	blood
13	chr8:10975600-10977000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:10975600-10981000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:10975600-10981400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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