Variant report

Variant	rs674499
Chromosome Location	chr11:66963425-66963426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66962013..66964416-chr11:66967953..66970600,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10791899	0.82[AMR][1000 genomes]
rs10896154	0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs10896167	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.90[EUR][1000 genomes]
rs11227756	1.00[ASW][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs11601700	0.93[EUR][1000 genomes]
rs1253778	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12788752	0.92[ASW][hapmap];0.89[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[YRI][hapmap]
rs12791853	0.83[GIH][hapmap]
rs1540135	0.86[EUR][1000 genomes]
rs1638566	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1638567	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs1638571	0.92[ASW][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs1638574	0.83[EUR][1000 genomes]
rs1790740	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs2001635	0.92[ASW][hapmap];0.92[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes]
rs2001636	0.87[AMR][1000 genomes]
rs2066496	0.83[GIH][hapmap]
rs2071007	1.00[ASW][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2256154	0.86[CHD][hapmap]
rs2298815	0.83[GIH][hapmap]
rs2429462	0.83[EUR][1000 genomes]
rs2514258	0.83[EUR][1000 genomes]
rs3737460	0.83[GIH][hapmap]
rs3758943	0.83[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap]
rs3781941	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs3781942	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs3781943	0.92[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs3927807	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4244819	1.00[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4255546	0.84[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs4375446	1.00[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4478996	1.00[ASW][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4503557	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4542419	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930192	1.00[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs4930197	0.92[ASW][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs4930418	1.00[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs56337023	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs608273	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs646834	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591232	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591239	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs660960	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106352	0.83[EUR][1000 genomes]
rs7113390	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7484186	0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7930829	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9943601	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs674499	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
2	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:66926000-66966800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:66926200-66963800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:66930800-66985600	Weak transcription	Small Intestine	intestine
6	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
7	chr11:66942600-66982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:66945800-66984800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:66947000-66964000	Strong transcription	Fetal Thymus	thymus
10	chr11:66948000-66970600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:66948200-66975000	Weak transcription	Right Ventricle	heart
12	chr11:66948200-66986400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:66949600-66975000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:66951200-66965000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:66951200-66975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:66951200-66975000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:66951200-66986600	Weak transcription	Fetal Brain Male	brain
18	chr11:66951600-66968000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:66953000-66975000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:66953400-66982800	Weak transcription	Aorta	Aorta
21	chr11:66953400-66982800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:66953600-66968000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:66953800-66966600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:66953800-66978400	Weak transcription	K562	blood
25	chr11:66953800-66982800	Weak transcription	HUVEC	blood vessel
26	chr11:66954000-66963600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:66954000-66967200	Weak transcription	Colonic Mucosa	Colon
28	chr11:66954000-66974600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:66954000-66976000	Weak transcription	Brain Substantia Nigra	brain
30	chr11:66954000-66979400	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:66954000-66984800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:66954200-66964800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:66954400-66963800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:66954400-66964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:66954400-66966400	Weak transcription	Fetal Brain Female	brain
36	chr11:66954400-66967000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:66954400-66967600	Weak transcription	Brain Anterior Caudate	brain
38	chr11:66954400-66974600	Weak transcription	Brain Germinal Matrix	brain
39	chr11:66954600-66993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:66954800-66975000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:66955000-66963600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:66956000-66975000	Weak transcription	Spleen	Spleen
43	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
44	chr11:66957200-66963600	Weak transcription	Lung	lung
45	chr11:66957200-66965000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:66957400-66963600	Strong transcription	GM12878-XiMat	blood
47	chr11:66957400-66964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:66957800-66964000	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:66958800-66963800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:66959000-66970400	Strong transcription	Primary T cells from cord blood	blood

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