Variant report

Variant	rs2409715
Chromosome Location	chr8:11010136-11010137
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10087081	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10105377	0.92[ASN][1000 genomes]
rs10106207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10106914	0.82[CHB][hapmap]
rs10503415	1.00[JPT][hapmap]
rs10503416	0.82[CHB][hapmap]
rs11250117	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11250119	0.82[JPT][hapmap]
rs11991716	0.82[CEU][hapmap]
rs17724467	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17783634	0.82[CHB][hapmap]
rs2409694	0.85[CEU][hapmap]
rs2409710	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2409712	0.82[CHB][hapmap]
rs2409713	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409716	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409717	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409718	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2409742	0.82[CHB][hapmap]
rs28417109	0.92[ASN][1000 genomes]
rs28630509	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28887839	0.83[EUR][1000 genomes]
rs3021494	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3021500	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs34162231	0.85[EUR][1000 genomes]
rs34772085	0.92[ASN][1000 genomes]
rs4333549	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4523214	0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4840544	0.84[ASN][1000 genomes]
rs4840549	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841495	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4841498	0.82[CHB][hapmap]
rs4841500	0.82[CHB][hapmap]
rs4841501	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841503	0.86[ASN][1000 genomes]
rs60921132	0.89[ASN][1000 genomes]
rs6601564	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs67849263	0.86[EUR][1000 genomes]
rs6986002	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6986032	0.82[CHB][hapmap]
rs6995204	0.86[ASN][1000 genomes]
rs6996846	0.92[ASN][1000 genomes]
rs7004825	0.85[JPT][hapmap]
rs7005680	0.82[ASN][1000 genomes]
rs7010590	0.82[CHB][hapmap]
rs7011756	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7460507	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7813802	0.82[CHB][hapmap]
rs7823349	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829396	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	nsv1019796	chr8:10979442-11010826	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv275517	chr8:11009873-11016516	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2409715	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:10989600-11014200	Weak transcription	Pancreas	Pancrea
3	chr8:10991800-11011800	Weak transcription	Left Ventricle	heart
4	chr8:10997200-11021000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:10997400-11011200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:10997400-11017400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:10999400-11021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:11001600-11021000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:11002800-11022000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:11005000-11015800	Weak transcription	GM12878-XiMat	blood
11	chr8:11006800-11012600	Weak transcription	HSMMtube	muscle
12	chr8:11006800-11026200	Weak transcription	HSMM	muscle
13	chr8:11009200-11010200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:11009200-11021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:11009200-11024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:11009800-11010200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:11009800-11021400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:11010000-11010200	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links