Variant report

Variant	rs1051006
Chromosome Location	chr11:47306585-47306586
allele	A/G
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	POLR2A	chr11:47306460-47306761	K562	blood:	n/a	n/a
2	POLR2A	chr11:47306380-47306828	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47296966..47300270-chr11:47303730..47307265,4	MCF-7	breast:

Variant related genes	Relation type
MADD	TF binding region
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1052373	0.82[MEX][hapmap]
rs10769253	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10769254	0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10769255	0.91[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10838663	0.80[CEU][hapmap]
rs10838681	0.86[MEX][hapmap]
rs10838685	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838687	0.82[ASW][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes]
rs10838689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838692	0.82[MEX][hapmap]
rs11039144	0.82[AMR][1000 genomes]
rs11039148	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11039155	0.89[EUR][1000 genomes]
rs11039189	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11493249	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11530166	0.92[AMR][1000 genomes]
rs11821917	0.81[CEU][hapmap]
rs11824864	0.81[CEU][hapmap]
rs11828339	0.81[CEU][hapmap]
rs12222581	0.81[AMR][1000 genomes]
rs12574081	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12574410	0.80[CEU][hapmap]
rs1449626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449627	0.82[MEX][hapmap]
rs16938581	0.80[AMR][1000 genomes]
rs17198158	0.81[CEU][hapmap]
rs17790804	0.81[CEU][hapmap]
rs2242261	0.93[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes]
rs2242262	0.80[CEU][hapmap];0.80[AMR][1000 genomes]
rs2242511	0.89[CEU][hapmap]
rs2254240	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279238	0.93[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2290146	0.87[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290148	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305280	0.82[ASW][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap]
rs2306353	0.80[CEU][hapmap]
rs2633083	0.80[AMR][1000 genomes]
rs2957873	0.87[ASW][hapmap];0.82[MEX][hapmap]
rs3729802	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3729804	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3729805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3758670	0.81[EUR][1000 genomes]
rs3781619	0.93[ASW][hapmap];0.80[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs3781620	0.80[AMR][1000 genomes]
rs3824866	0.80[CEU][hapmap];0.82[AMR][1000 genomes]
rs3847503	0.81[CEU][hapmap]
rs4647737	0.82[AMR][1000 genomes]
rs4647741	0.80[AMR][1000 genomes]
rs4647754	0.82[AMR][1000 genomes]
rs4752839	0.81[CEU][hapmap]
rs4752965	0.80[CEU][hapmap]
rs4752973	0.87[ASW][hapmap];1.00[MEX][hapmap]
rs4752977	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4752978	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752979	0.88[AMR][1000 genomes]
rs4752983	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58023804	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59567949	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6485751	0.88[AMR][1000 genomes]
rs7118396	0.93[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7120118	0.82[MEX][hapmap]
rs7120158	0.80[AMR][1000 genomes]
rs7124958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7395496	0.80[CEU][hapmap]
rs753812	0.90[CEU][hapmap]
rs753992	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs753993	0.87[CHB][hapmap];0.82[AMR][1000 genomes]
rs7928073	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7933246	0.80[AMR][1000 genomes]
rs830085	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1051006	ACP2	cis	multi-tissue	Pritchard
rs1051006	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs1051006	ACP2	cis	lymphoblastoid	seeQTL
rs1051006	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs1051006	DDB2	cis	lymphoblastoid	seeQTL
rs1051006	PTPMT1	cis	parietal	SCAN
rs1051006	MADD	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47294800-47310200	Weak transcription	Right Atrium	heart
3	chr11:47295000-47323600	Strong transcription	Dnd41	blood
4	chr11:47295200-47308800	Strong transcription	Osteobl	bone
5	chr11:47295200-47319800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr11:47295200-47320200	Strong transcription	Fetal Stomach	stomach
7	chr11:47295200-47321600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr11:47295200-47323800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:47295200-47326800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47295400-47308200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:47295400-47308400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:47295400-47308400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:47295400-47308600	Strong transcription	NHLF	lung
14	chr11:47295400-47318200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:47295400-47318800	Strong transcription	Thymus	Thymus
16	chr11:47295400-47319200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr11:47295400-47319600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47295400-47319600	Strong transcription	Fetal Brain Female	brain
19	chr11:47295400-47320800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:47295400-47321400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:47295400-47323800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:47295400-47324800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:47295400-47324800	Strong transcription	Fetal Thymus	thymus
24	chr11:47295400-47340200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:47295400-47341000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:47295400-47352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:47295600-47319600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:47295600-47320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:47295600-47320200	Strong transcription	Fetal Intestine Large	intestine
30	chr11:47295600-47321200	Strong transcription	Brain Germinal Matrix	brain
31	chr11:47295600-47321800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr11:47295600-47323800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:47295600-47323800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:47295600-47324000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:47295600-47324200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:47295600-47324200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:47295600-47338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:47295800-47315800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:47295800-47319600	Strong transcription	Fetal Intestine Small	intestine
40	chr11:47295800-47319800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:47295800-47320000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:47295800-47322000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:47295800-47322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:47295800-47340600	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:47295800-47352800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr11:47296000-47308400	Strong transcription	GM12878-XiMat	blood
47	chr11:47296000-47308600	Strong transcription	Colon Smooth Muscle	Colon
48	chr11:47296000-47317200	Strong transcription	Pancreas	Pancrea
49	chr11:47296000-47317600	Strong transcription	Gastric	stomach
50	chr11:47296000-47318800	Strong transcription	H1 Cell Line	embryonic stem cell

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