Variant report

Variant	rs7937611
Chromosome Location	chr11:66882995-66882996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:66882746-66883131	HL-60	blood:	n/a	chr11:66883007-66883020

No.	Distal block	Cell Line	Cell type
1	chr11:66872090..66874276-chr11:66882740..66884363,2	K562	blood:
2	chr11:66864238..66866456-chr11:66880720..66884624,3	MCF-7	breast:
3	chr11:66882735..66884511-chr11:66919392..66921298,2	MCF-7	breast:
4	chr11:66882414..66884235-chr11:66886143..66887671,2	K562	blood:
5	chr11:66880959..66884235-chr11:66884376..66888396,5	K562	blood:

Variant related genes	Relation type
KDM2A	TF binding region
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	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732253	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10750796	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11227699	1.00[GIH][hapmap]
rs1253784	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]
rs1894111	1.00[EUR][1000 genomes]
rs3741189	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3825022	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]
rs4271388	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4344498	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4457752	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57327069	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57478329	1.00[AMR][1000 genomes];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[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs655168	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682509	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7941655	0.89[JPT][hapmap]

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
rs7937611	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66871600-66884200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:66879000-66885200	Weak transcription	Right Ventricle	heart
3	chr11:66879200-66884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:66879200-66885000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:66879200-66885000	Weak transcription	Right Atrium	heart
6	chr11:66879200-66885200	Weak transcription	Left Ventricle	heart
7	chr11:66879400-66883600	Weak transcription	Fetal Lung	lung
8	chr11:66879400-66884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:66879400-66884800	Weak transcription	Adipose Nuclei	Adipose
10	chr11:66879400-66885000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:66879600-66883400	Weak transcription	Fetal Stomach	stomach
12	chr11:66879600-66884400	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:66879600-66884400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:66879600-66884800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:66879600-66885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:66880400-66883200	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:66880400-66885000	Enhancers	Fetal Intestine Small	intestine
20	chr11:66880600-66883000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr11:66880600-66883600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:66880600-66885000	Enhancers	Fetal Intestine Large	intestine
23	chr11:66881000-66883600	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:66881000-66884200	Weak transcription	Fetal Heart	heart
25	chr11:66881000-66886800	Weak transcription	K562	blood
26	chr11:66881200-66883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:66881200-66883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:66881200-66883600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:66881200-66883600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:66881200-66884200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:66881200-66884200	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:66881200-66884400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:66881200-66884400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:66881200-66884400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:66881200-66884600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:66881200-66884800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:66881200-66884800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:66881200-66885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:66881200-66885000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:66881200-66885000	Weak transcription	Esophagus	oesophagus
41	chr11:66881200-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:66881200-66885200	Weak transcription	Dnd41	blood
43	chr11:66881400-66883400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:66881400-66883600	Enhancers	GM12878-XiMat	blood
45	chr11:66881400-66884600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:66881400-66885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:66881600-66884800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:66881800-66883000	Enhancers	Liver	Liver
49	chr11:66881800-66884800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:66881800-66885000	Weak transcription	Primary T cells fromperipheralblood	blood

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