Variant report

Variant	rs1630068
Chromosome Location	chr11:67224839-67224840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67157021..67160587-chr11:67222667..67225674,3	MCF-7	breast:
2	chr11:67219760..67221502-chr11:67222949..67225729,3	K562	blood:

Variant related genes	Relation type
ENSG00000172613	Chromatin interaction
ENSG00000175514	Chromatin interaction
ENSG00000175544	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10896175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227804	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11821703	1.00[EUR][1000 genomes]
rs12293606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1382089	1.00[EUR][1000 genomes]
rs1618605	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1620333	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1624189	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1625032	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1625892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1632616	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638558	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638560	1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638561	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638563	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638570	1.00[EUR][1000 genomes]
rs1638572	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[EUR][1000 genomes]
rs1638575	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638581	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638584	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638585	0.90[AMR][1000 genomes]
rs1638587	1.00[EUR][1000 genomes]
rs1790729	1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[EUR][1000 genomes]
rs1790730	1.00[EUR][1000 genomes]
rs1790734	1.00[EUR][1000 genomes]
rs1790736	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790745	1.00[EUR][1000 genomes]
rs1790749	0.87[MKK][hapmap];1.00[EUR][1000 genomes]
rs1790750	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[EUR][1000 genomes]
rs1790754	1.00[EUR][1000 genomes]
rs1790756	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790763	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790764	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790765	1.00[EUR][1000 genomes]
rs1824712	1.00[EUR][1000 genomes]
rs2054409	1.00[EUR][1000 genomes]
rs2447590	1.00[EUR][1000 genomes]
rs2447591	1.00[EUR][1000 genomes]
rs2447597	1.00[EUR][1000 genomes]
rs2511058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514013	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2514014	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2514015	1.00[EUR][1000 genomes]
rs2514024	1.00[EUR][1000 genomes]
rs2514045	1.00[EUR][1000 genomes]
rs2514064	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2514259	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2514262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514263	1.00[EUR][1000 genomes]
rs2885171	1.00[EUR][1000 genomes]
rs3016861	1.00[EUR][1000 genomes]
rs35363135	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36052107	1.00[EUR][1000 genomes]
rs56050553	1.00[EUR][1000 genomes]
rs56102510	1.00[EUR][1000 genomes]
rs56405884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57047868	1.00[EUR][1000 genomes]
rs57134963	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57749415	1.00[EUR][1000 genomes]
rs57757103	1.00[EUR][1000 genomes]
rs57955602	1.00[EUR][1000 genomes]
rs58999825	1.00[EUR][1000 genomes]
rs59500232	1.00[EUR][1000 genomes]
rs596431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs596944	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601363	0.89[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60136955	1.00[EUR][1000 genomes]
rs602220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60251934	1.00[EUR][1000 genomes]
rs602720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs604540	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521870	1.00[EUR][1000 genomes]
rs60751057	1.00[EUR][1000 genomes]
rs611697	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61282424	1.00[EUR][1000 genomes]
rs61429992	1.00[EUR][1000 genomes]
rs61610719	1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6591267	1.00[EUR][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124630	1.00[MEX][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490545	1.00[EUR][1000 genomes]
rs73490554	1.00[EUR][1000 genomes]
rs73501797	1.00[EUR][1000 genomes]
rs73501800	1.00[EUR][1000 genomes]
rs73506004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506054	1.00[EUR][1000 genomes]
rs73506056	1.00[EUR][1000 genomes]
rs73506069	1.00[EUR][1000 genomes]
rs73506074	1.00[EUR][1000 genomes]
rs743679	1.00[EUR][1000 genomes]
rs7934566	1.00[EUR][1000 genomes]
rs7941752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947114	1.00[EUR][1000 genomes]
rs8191436	1.00[EUR][1000 genomes]
rs8191446	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8191449	1.00[EUR][1000 genomes]
rs949250	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949251	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949252	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949253	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949254	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	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
3	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
4	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
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription 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	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription 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 miRNA target site	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
19	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
21	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
22	esv1813337	chr11:67217703-67235815	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
23	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1630068	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
2	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67212400-67226800	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:67215400-67227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:67215800-67230600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
7	chr11:67218600-67227000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:67219000-67231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67219200-67225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:67219800-67226800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:67220400-67231400	Weak transcription	Gastric	stomach
12	chr11:67220400-67231400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:67220400-67231400	Weak transcription	Right Ventricle	heart
14	chr11:67221400-67230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:67222000-67226000	Weak transcription	Spleen	Spleen
16	chr11:67222400-67227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:67223000-67227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:67223600-67231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:67224200-67226800	Enhancers	Primary B cells from cord blood	blood
20	chr11:67224400-67225200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:67224800-67226200	Enhancers	Primary T cells fromperipheralblood	blood

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