Variant report

Variant	rs2199690
Chromosome Location	chr8:11339616-11339617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
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	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11250146	1.00[CHB][hapmap]
rs11775149	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775150	0.94[AMR][1000 genomes];0.98[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]
rs13272061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];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];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478890	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1478898	1.00[ASN][1000 genomes]
rs1531576	0.86[EUR][1000 genomes]
rs1600250	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600252	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744726	1.00[CHB][hapmap]
rs17799486	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061830	1.00[ASN][1000 genomes]
rs2127127	1.00[CHB][hapmap]
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];0.81[AMR][1000 genomes];0.90[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];0.84[AMR][1000 genomes];0.95[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	1.00[ASN][1000 genomes]
rs6601599	1.00[ASN][1000 genomes]
rs6999912	1.00[CHB][hapmap]
rs7464263	1.00[CHB][hapmap]
rs756038	0.86[EUR][1000 genomes]
rs7822109	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829381	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831885	1.00[CHB][hapmap]
rs978802	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978803	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978804	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' 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
rs2199690	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs2199690	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs2199690	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11336000-11339800	Enhancers	NHEK	skin
2	chr8:11336200-11343200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:11336400-11340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:11336600-11339800	Enhancers	NHDF-Ad	bronchial
5	chr8:11337000-11339800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:11337000-11339800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:11337000-11339800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:11337000-11339800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:11337000-11339800	Enhancers	HMEC	breast
10	chr8:11337200-11339800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:11337800-11341600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11338000-11340400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:11338200-11340200	Enhancers	Primary B cells from cord blood	blood
14	chr8:11338200-11341000	Enhancers	GM12878-XiMat	blood
15	chr8:11338200-11341000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11338400-11339800	Enhancers	A549	lung
18	chr8:11338400-11340200	Enhancers	Placenta	Placenta
19	chr8:11338800-11343800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:11339400-11339800	Enhancers	Fetal Thymus	thymus
22	chr8:11339400-11339800	Enhancers	Spleen	Spleen
23	chr8:11339600-11340200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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