Variant report

Variant	rs17723229
Chromosome Location	chr8:10930069-10930070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10091993	0.80[ASN][1000 genomes]
rs10105315	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10108618	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10113808	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11773990	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11991118	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2409689	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2409691	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28719598	0.80[ASN][1000 genomes]
rs28722721	0.83[AMR][1000 genomes]
rs2898256	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2898257	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2898260	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34094119	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840542	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4840544	0.81[AMR][1000 genomes]
rs4841489	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4841490	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4841495	0.81[AMR][1000 genomes]
rs6601559	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6601560	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6980856	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6982381	0.82[AMR][1000 genomes]
rs7017567	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7812573	0.80[ASN][1000 genomes]
rs7820860	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7835318	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9657519	0.88[AMR][1000 genomes];0.88[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17723229	AF131215.2	cis	Stomach	GTEx
rs17723229	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10924800-10931400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:10925000-10930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10925000-10931200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:10925000-10931200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:10925000-10941800	Weak transcription	Right Atrium	heart
6	chr8:10925400-10931200	Weak transcription	HSMMtube	muscle
7	chr8:10925600-10935800	Weak transcription	Spleen	Spleen
8	chr8:10925600-10944400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:10926000-10931200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:10926200-10931200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:10928400-10930200	Enhancers	GM12878-XiMat	blood
12	chr8:10929200-10930200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:10929200-10930200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:10929200-10930400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:10929200-10931200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:10929400-10930200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:10929400-10930200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:10929400-10930200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:10929400-10930200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:10929400-10930200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:10929400-10930200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:10929400-10930200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:10929600-10930200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:10929600-10930200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:10929600-10930400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:10929600-10930400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:10929600-10931200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:10929600-10931200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:10929600-10932800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links