Variant report

Variant	rs10105315
Chromosome Location	chr8:10932203-10932204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10091993	0.83[ASN][1000 genomes]
rs10099881	0.89[ASN][1000 genomes]
rs10106207	0.81[CEU][hapmap]
rs10108304	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10108618	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10113735	0.89[ASN][1000 genomes]
rs10113808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11773990	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778398	1.00[CHB][hapmap]
rs11986748	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11991118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11991121	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11991716	1.00[CHB][hapmap]
rs12542383	0.89[ASN][1000 genomes]
rs17723229	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17724226	1.00[CHB][hapmap]
rs17724467	0.89[CEU][hapmap]
rs17780806	1.00[CHB][hapmap]
rs2001329	0.84[CEU][hapmap]
rs2001433	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2409689	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2409691	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2409692	1.00[CHB][hapmap]
rs2409694	1.00[CHB][hapmap]
rs2409710	0.82[CEU][hapmap]
rs2409718	0.81[CEU][hapmap]
rs2409720	1.00[CHB][hapmap]
rs28510951	0.89[ASN][1000 genomes]
rs28722721	0.85[AMR][1000 genomes]
rs2898256	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2898257	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2898258	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2898260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3021494	0.81[CEU][hapmap]
rs34094119	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4262293	0.89[ASN][1000 genomes]
rs4333549	0.82[CEU][hapmap]
rs4523214	0.96[CEU][hapmap]
rs4840542	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4840544	0.81[AMR][1000 genomes]
rs4840551	1.00[CHB][hapmap]
rs4841489	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4841490	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4841495	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs4841498	0.81[CEU][hapmap]
rs55676920	0.89[ASN][1000 genomes]
rs55813668	0.89[ASN][1000 genomes]
rs59724806	0.89[ASN][1000 genomes]
rs60134032	0.89[ASN][1000 genomes]
rs6601559	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6601560	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6601561	0.83[CEU][hapmap]
rs6601562	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs6601564	0.81[CEU][hapmap]
rs66475020	0.89[ASN][1000 genomes]
rs6980856	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6982381	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6991930	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs6999969	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7014291	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7017567	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7463505	0.89[ASN][1000 genomes]
rs7820860	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7825690	1.00[CHB][hapmap]
rs7835318	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9329235	0.89[ASN][1000 genomes]
rs9657519	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10105315	AF131215.9	cis	Skin Sun Exposed Lower leg	GTEx
rs10105315	AF131215.2	cis	Stomach	GTEx
rs10105315	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10925000-10941800	Weak transcription	Right Atrium	heart
2	chr8:10925600-10935800	Weak transcription	Spleen	Spleen
3	chr8:10925600-10944400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:10929600-10932800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:10930200-10936000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10931400-10932400	Enhancers	Brain Germinal Matrix	brain
7	chr8:10931600-10935200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:10931800-10932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:10931800-10935000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:10932000-10934600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10932000-10934800	Weak transcription	Brain Anterior Caudate	brain
12	chr8:10932000-10934800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:10932000-10939800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:10932200-10934800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:10932200-10935000	Weak transcription	Brain Angular Gyrus	brain
16	chr8:10932200-10935000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:10932200-10935000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:10932200-10936400	Weak transcription	HMEC	breast

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