Variant report

Variant	rs10503415
Chromosome Location	chr8:10983921-10983922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10087081	1.00[JPT][hapmap]
rs10088853	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10101329	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10106207	1.00[JPT][hapmap]
rs11250117	1.00[JPT][hapmap]
rs11250119	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11776603	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs13265553	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13266785	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13276708	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13281566	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17724467	1.00[JPT][hapmap]
rs17726209	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs17782536	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs17782554	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2409710	1.00[JPT][hapmap]
rs2409713	1.00[JPT][hapmap]
rs2409714	1.00[JPT][hapmap]
rs2409715	1.00[JPT][hapmap]
rs2409716	1.00[JPT][hapmap]
rs2409718	1.00[JPT][hapmap]
rs2409719	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs2409730	1.00[CHB][hapmap]
rs3021494	1.00[JPT][hapmap]
rs3021495	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3021497	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3021498	0.86[EUR][1000 genomes]
rs3021500	1.00[JPT][hapmap]
rs3021501	0.88[EUR][1000 genomes]
rs34309263	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34367737	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4291231	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4333549	1.00[JPT][hapmap]
rs4523214	0.85[JPT][hapmap]
rs4642600	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs4840548	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4840549	1.00[JPT][hapmap]
rs4841495	0.82[JPT][hapmap]
rs4841497	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841499	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841501	1.00[JPT][hapmap]
rs4841504	1.00[CHB][hapmap]
rs6601564	1.00[JPT][hapmap]
rs7004825	0.85[JPT][hapmap]
rs7011756	1.00[JPT][hapmap]
rs7460507	1.00[JPT][hapmap]
rs7823349	1.00[JPT][hapmap]
rs7829396	1.00[JPT][hapmap]
rs7830569	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9657546	0.93[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	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
8	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10503415	AF131215.2	cis	Nerve Tibial	GTEx
rs10503415	NA	cis	multi-tissue	Pritchard
rs10503415	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10982800-10985800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:10982800-11003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:10983000-10985000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:10983000-10985800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:10983000-11002000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:10983000-11003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:10983200-10989400	Weak transcription	Pancreas	Pancrea
10	chr8:10983200-10991000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:10983200-10997000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:10983200-11001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10983400-10984400	Enhancers	GM12878-XiMat	blood
14	chr8:10983400-10984600	Weak transcription	Small Intestine	intestine
15	chr8:10983400-10985600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:10983400-10985800	Weak transcription	Spleen	Spleen
17	chr8:10983400-10990800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:10983600-10990600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:10983600-10991000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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