Variant report

Variant	rs13272061
Chromosome Location	chr8:11352261-11352262
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10108511	1.00[CHB][hapmap]
rs1042701	1.00[CHB][hapmap]
rs11250140	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250146	1.00[CHB][hapmap]
rs11775149	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775150	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775779	1.00[CHB][hapmap]
rs11776834	1.00[CHB][hapmap]
rs11777273	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11780851	1.00[ASN][1000 genomes]
rs11780980	1.00[CHB][hapmap]
rs11781400	1.00[CHB][hapmap]
rs11784016	1.00[CHB][hapmap]
rs12155745	1.00[ASN][1000 genomes]
rs12156238	1.00[CHB][hapmap]
rs12386974	1.00[ASN][1000 genomes]
rs13275864	1.00[ASN][1000 genomes]
rs13439415	1.00[CHB][hapmap]
rs1382567	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478890	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478898	1.00[ASN][1000 genomes]
rs1531576	0.83[EUR][1000 genomes]
rs1600250	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600252	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744726	1.00[CHB][hapmap]
rs17799486	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061830	1.00[ASN][1000 genomes]
rs2127127	1.00[CHB][hapmap]
rs2199690	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245232	1.00[CHB][hapmap]
rs2245250	1.00[ASN][1000 genomes]
rs2245357	1.00[ASN][1000 genomes]
rs2248315	1.00[ASN][1000 genomes]
rs2248316	1.00[ASN][1000 genomes]
rs2248325	1.00[ASN][1000 genomes]
rs2264306	1.00[CHB][hapmap]
rs2264866	1.00[CHB][hapmap]
rs2409784	1.00[CHB][hapmap]
rs2409798	1.00[CHB][hapmap]
rs2467520	1.00[ASN][1000 genomes]
rs2618434	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2736342	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35986297	1.00[ASN][1000 genomes]
rs4410870	1.00[CHB][hapmap]
rs4606022	1.00[CHB][hapmap]
rs4840567	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841545	1.00[CHB][hapmap]
rs4841548	1.00[CHB][hapmap]
rs4841567	1.00[CHB][hapmap]
rs4841569	1.00[ASN][1000 genomes]
rs55860742	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601599	1.00[ASN][1000 genomes]
rs6999912	1.00[CHB][hapmap]
rs7464263	1.00[CHB][hapmap]
rs756038	0.83[EUR][1000 genomes]
rs7822109	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829381	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831885	1.00[CHB][hapmap]
rs978802	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978803	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978804	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13272061	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs13272061	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs13272061	C8orf13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11349600-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:11349800-11354000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:11350000-11352600	Weak transcription	Osteobl	bone
6	chr8:11350200-11356600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:11350400-11352800	Weak transcription	NH-A	brain
8	chr8:11350400-11354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:11350400-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:11350400-11355400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:11350600-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:11350800-11353800	Weak transcription	NHDF-Ad	bronchial
13	chr8:11351000-11352800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:11351000-11353200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:11351000-11354800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:11351200-11352800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr8:11351400-11353000	Active TSS	Primary T cells from cord blood	blood
18	chr8:11351600-11352400	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:11351600-11352400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr8:11351600-11352600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:11351600-11353000	Flanking Active TSS	Fetal Thymus	thymus
22	chr8:11351800-11352400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:11351800-11352400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:11351800-11352600	Active TSS	Dnd41	blood
25	chr8:11351800-11352800	Active TSS	Primary B cells from peripheral blood	blood
26	chr8:11351800-11352800	Active TSS	Duodenum Mucosa	Duodenum
27	chr8:11351800-11353400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:11352000-11352400	Active TSS	Small Intestine	intestine
29	chr8:11352000-11353000	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr8:11352000-11353800	Active TSS	GM12878-XiMat	blood
31	chr8:11352200-11352600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:11352200-11353400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr8:11352200-11353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:11352200-11354800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:11352200-11360400	Weak transcription	Spleen	Spleen

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