Variant report

Variant	rs1894111
Chromosome Location	chr11:67038612-67038613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10400320	1.00[EUR][1000 genomes]
rs10732253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10750796	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896171	1.00[GIH][hapmap]
rs11227699	1.00[GIH][hapmap]
rs11227771	1.00[GIH][hapmap]
rs11227780	1.00[GIH][hapmap]
rs1253784	1.00[GIH][hapmap];0.89[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2228522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2255990	1.00[GIH][hapmap]
rs3741189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3815364	1.00[CHB][hapmap]
rs3825022	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4271388	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4344498	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4457752	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57327069	1.00[EUR][1000 genomes]
rs57478329	0.81[EUR][1000 genomes]
rs57724865	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58224869	1.00[EUR][1000 genomes]
rs59057433	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59817822	0.94[EUR][1000 genomes]
rs61180657	0.88[ASN][1000 genomes]
rs61663253	0.94[EUR][1000 genomes]
rs645387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655168	1.00[EUR][1000 genomes]
rs682509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7937611	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7941655	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1894111	RPS6KB2	cis	lymphoblastoid	seeQTL
rs1894111	RPS6KB2	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67034400-67039200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:67034600-67039400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr11:67034800-67039000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:67034800-67039800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
8	chr11:67034800-67041000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
10	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Thymus	Thymus
13	chr11:67035000-67040800	Weak transcription	Ovary	ovary
14	chr11:67035200-67039400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:67035200-67039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr11:67035200-67039600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:67035200-67039800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr11:67035200-67040400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
19	chr11:67035400-67040800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:67035400-67044400	Weak transcription	A549	lung
21	chr11:67035600-67040000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr11:67035600-67041200	Genic enhancers	Gastric	stomach
23	chr11:67035600-67041400	Enhancers	Fetal Heart	heart
24	chr11:67035600-67041600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:67035800-67038800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:67035800-67044600	Enhancers	Left Ventricle	heart
28	chr11:67036000-67040400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:67036000-67041000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:67036200-67038800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr11:67036200-67040600	Weak transcription	HMEC	breast
32	chr11:67036600-67039000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:67036800-67039600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:67036800-67041000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:67037000-67038800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:67037000-67038800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
37	chr11:67037000-67039000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr11:67037000-67039000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:67037000-67039800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:67037000-67039800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr11:67037000-67041400	Enhancers	Osteobl	bone
42	chr11:67037200-67038800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:67037200-67038800	Flanking Active TSS	Fetal Brain Female	brain
44	chr11:67037200-67039800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:67037200-67040600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr11:67037200-67041800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
48	chr11:67037400-67038800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:67037400-67039000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr11:67037400-67039600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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