Variant report

Variant	rs10734549
Chromosome Location	chr11:46822686-46822687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1007738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10734548	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10742784	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769205	0.89[GIH][hapmap]
rs10769208	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769211	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769212	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769226	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs10838612	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10838620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838624	0.91[ASN][1000 genomes]
rs10838627	0.84[ASN][1000 genomes]
rs10838628	0.84[ASN][1000 genomes]
rs10838629	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10838635	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs11038977	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs11038994	0.99[ASN][1000 genomes]
rs11038999	0.95[ASN][1000 genomes]
rs11039002	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11039014	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11039017	0.84[ASN][1000 genomes]
rs11600292	0.82[GIH][hapmap];0.92[TSI][hapmap]
rs11602036	0.91[ASN][1000 genomes]
rs12361673	0.89[GIH][hapmap]
rs12575609	0.96[ASN][1000 genomes]
rs12806577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12807111	0.87[EUR][1000 genomes]
rs13448	0.86[GIH][hapmap]
rs1551744	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1809293	0.91[ASN][1000 genomes]
rs2035068	0.86[EUR][1000 genomes]
rs2070850	0.87[CHB][hapmap]
rs2070852	0.89[GIH][hapmap];0.92[MEX][hapmap]
rs2290883	0.91[ASN][1000 genomes]
rs2290884	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306026	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306027	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2306028	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2306033	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2306035	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2306036	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs2306037	1.00[JPT][hapmap]
rs3136441	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3136447	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3136457	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3136460	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs3816614	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829940	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075619	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076557	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4294527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4394802	0.83[GIH][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap]
rs4453193	0.91[ASN][1000 genomes]
rs4453194	0.87[ASN][1000 genomes]
rs4469848	0.99[ASN][1000 genomes]
rs4534535	0.91[ASN][1000 genomes]
rs4581406	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs4606447	0.87[GIH][hapmap]
rs4752815	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs4752816	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs4752927	0.91[JPT][hapmap]
rs4752932	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4752933	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4752936	0.99[ASN][1000 genomes]
rs4752940	0.95[ASN][1000 genomes]
rs4752941	0.92[ASN][1000 genomes]
rs4752946	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs4752947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5896	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs60258676	0.91[ASN][1000 genomes]
rs6485692	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6485695	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6485696	0.94[GIH][hapmap];0.80[MEX][hapmap]
rs6485702	0.91[GIH][hapmap];0.80[MEX][hapmap]
rs6485715	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs7101374	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107778	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7109707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118170	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7119247	0.83[ASN][1000 genomes]
rs7130947	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs7480140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7480260	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7929294	0.83[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7934421	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935346	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs7938169	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs7940441	0.92[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs7940578	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7940682	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7941252	0.90[EUR][1000 genomes]
rs7941894	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7941964	0.95[ASN][1000 genomes]
rs7943866	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7945558	0.92[TSI][hapmap]
rs964551	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3335996	chr11:46818751-46843532	Genic enhancers Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10734549	ACP2	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
4	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:46762800-46835600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:46762800-46842400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:46763400-46839600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:46779400-46824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
12	chr11:46787000-46828200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:46787800-46824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:46788000-46826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:46788200-46825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:46788200-46841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:46788600-46824200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:46788600-46840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:46788800-46824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:46796400-46824600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:46796600-46825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:46796800-46823800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:46796800-46824000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:46796800-46824200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:46796800-46824200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:46796800-46824400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:46796800-46824400	Strong transcription	Brain Germinal Matrix	brain
28	chr11:46796800-46824600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:46797000-46824200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:46797000-46825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:46797200-46824200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:46797200-46824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:46797200-46826000	Strong transcription	Dnd41	blood
34	chr11:46797400-46823800	Strong transcription	Osteobl	bone
35	chr11:46797400-46824400	Strong transcription	Placenta	Placenta
36	chr11:46801400-46822800	Strong transcription	Primary B cells from cord blood	blood
37	chr11:46803800-46825000	Strong transcription	Adipose Nuclei	Adipose
38	chr11:46804000-46824000	Strong transcription	Primary T cells from cord blood	blood
39	chr11:46804000-46826000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:46804200-46824600	Strong transcription	Fetal Intestine Large	intestine
41	chr11:46804200-46825400	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:46804400-46825200	Strong transcription	GM12878-XiMat	blood
43	chr11:46804400-46826200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:46804600-46823800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:46805000-46825400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr11:46805200-46824000	Strong transcription	Thymus	Thymus
47	chr11:46805200-46825200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:46805200-46825200	Strong transcription	Fetal Stomach	stomach
49	chr11:46805600-46824400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:46807400-46825400	Strong transcription	HSMM	muscle

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