Variant report

Variant	rs1253784
Chromosome Location	chr11:66933410-66933411
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66884015..66889039-chr11:66933134..66935481,4	MCF-7	breast:
2	chr11:66845409..66847808-chr11:66931726..66933448,2	MCF-7	breast:
3	chr11:66933281..66937072-chr11:67006310..67009809,4	K562	blood:

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10400320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732253	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10750796	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227699	1.00[GIH][hapmap]
rs11227771	1.00[GIH][hapmap]
rs1894111	1.00[EUR][1000 genomes]
rs3741189	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3825022	1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4271388	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4344498	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4457752	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57327069	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57478329	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57724865	1.00[EUR][1000 genomes]
rs58224869	1.00[EUR][1000 genomes]
rs59057433	1.00[EUR][1000 genomes]
rs59817822	0.94[EUR][1000 genomes]
rs61663253	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs645387	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682509	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937611	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs1253784	RPS6KB2	cis	multi-tissue	Pritchard

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66900400-66933800	Weak transcription	Esophagus	oesophagus
2	chr11:66903000-66934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66904400-66934000	Weak transcription	K562	blood
4	chr11:66905600-66950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:66907800-66953000	Weak transcription	Aorta	Aorta
6	chr11:66907800-66975000	Weak transcription	Pancreas	Pancrea
7	chr11:66918600-66947200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:66918800-66934000	Weak transcription	Left Ventricle	heart
9	chr11:66918800-66934600	Weak transcription	HMEC	breast
10	chr11:66918800-66935400	Weak transcription	HSMMtube	muscle
11	chr11:66918800-66936000	Weak transcription	Gastric	stomach
12	chr11:66918800-66947400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:66918800-66968000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:66919400-66934600	Weak transcription	NH-A	brain
15	chr11:66919400-66947200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:66919600-66950400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:66919800-66947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:66919800-66947400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:66919800-66947400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:66919800-66949600	Weak transcription	Lung	lung
21	chr11:66920000-66934800	Weak transcription	HepG2	liver
22	chr11:66920000-66947600	Weak transcription	Right Ventricle	heart
23	chr11:66920400-66947200	Weak transcription	Placenta	Placenta
24	chr11:66920400-66947400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:66920800-66941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:66920800-66949200	Weak transcription	Fetal Kidney	kidney
27	chr11:66921200-66945200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:66921200-66946800	Weak transcription	Ovary	ovary
29	chr11:66921400-66935600	Weak transcription	Dnd41	blood
30	chr11:66922000-66938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:66922400-66934600	Weak transcription	A549	lung
32	chr11:66922600-66947200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:66923000-66934600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:66923000-66934800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:66923000-66940800	Weak transcription	Fetal Stomach	stomach
36	chr11:66923000-66947400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:66923200-66947400	Weak transcription	Thymus	Thymus
38	chr11:66925800-66945200	Weak transcription	Fetal Lung	lung
39	chr11:66926000-66935600	Weak transcription	Brain Anterior Caudate	brain
40	chr11:66926000-66950400	Weak transcription	Brain Germinal Matrix	brain
41	chr11:66926000-66966800	Weak transcription	Brain Angular Gyrus	brain
42	chr11:66926200-66948400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:66926200-66963800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:66927600-66942000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:66927800-66942200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:66928000-66938600	Weak transcription	Primary B cells from cord blood	blood
47	chr11:66928600-66945000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:66928800-66934800	Weak transcription	Liver	Liver
49	chr11:66929000-66942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:66929000-66947600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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