Variant report

Variant	rs12575609
Chromosome Location	chr11:46807378-46807379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1007738	0.92[ASN][1000 genomes]
rs10734548	0.94[ASN][1000 genomes]
rs10734549	0.96[ASN][1000 genomes]
rs10742784	0.86[ASN][1000 genomes]
rs10769208	0.96[ASN][1000 genomes]
rs10769211	0.90[ASN][1000 genomes]
rs10769212	0.88[ASN][1000 genomes]
rs10838620	0.96[ASN][1000 genomes]
rs10838624	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10838627	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838628	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838629	0.82[ASN][1000 genomes]
rs11038977	0.81[AMR][1000 genomes]
rs11038994	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11038999	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039002	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039014	0.88[ASN][1000 genomes]
rs11039017	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11039024	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11602036	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602537	0.81[AMR][1000 genomes]
rs11604876	0.81[AMR][1000 genomes]
rs12574512	0.81[AMR][1000 genomes]
rs12806577	0.88[ASN][1000 genomes]
rs1551744	0.92[ASN][1000 genomes]
rs1799867	0.83[AMR][1000 genomes]
rs1809293	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2070850	0.80[AMR][1000 genomes]
rs2290883	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290884	0.88[ASN][1000 genomes]
rs2306026	0.88[ASN][1000 genomes]
rs2306028	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2306033	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2306037	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3136441	0.81[AMR][1000 genomes]
rs3136449	0.81[AMR][1000 genomes]
rs3136457	0.81[AMR][1000 genomes]
rs3136460	0.81[AMR][1000 genomes]
rs3136499	0.80[AMR][1000 genomes]
rs3816614	0.88[ASN][1000 genomes]
rs3829940	0.90[ASN][1000 genomes]
rs4075619	0.96[ASN][1000 genomes]
rs4076557	0.81[AMR][1000 genomes]
rs4294527	0.95[ASN][1000 genomes]
rs4453193	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4453194	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4469848	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4534535	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752931	0.81[AMR][1000 genomes]
rs4752932	0.80[AMR][1000 genomes]
rs4752933	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4752936	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752940	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752941	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752946	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752947	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57704144	0.81[AMR][1000 genomes]
rs58389391	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5896	0.81[AMR][1000 genomes]
rs60258676	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6485692	0.98[ASN][1000 genomes]
rs6485695	0.96[ASN][1000 genomes]
rs7101374	0.96[ASN][1000 genomes]
rs7107778	0.92[ASN][1000 genomes]
rs7109707	0.96[ASN][1000 genomes]
rs7119247	0.81[ASN][1000 genomes]
rs7480140	0.92[ASN][1000 genomes]
rs7480260	0.93[ASN][1000 genomes]
rs7929294	0.92[ASN][1000 genomes]
rs7934421	0.92[ASN][1000 genomes]
rs7940578	0.99[ASN][1000 genomes]
rs7940682	0.92[ASN][1000 genomes]
rs7941894	0.96[ASN][1000 genomes]
rs7941964	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943866	0.88[ASN][1000 genomes]
rs964551	0.88[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	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12575609	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr11:46770200-46818200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:46778800-46841200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:46779400-46824600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:46780600-46814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:46782600-46847400	Weak transcription	Stomach Mucosa	stomach
14	chr11:46785800-46807800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:46786000-46809600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:46787000-46828200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:46787800-46824600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:46788000-46826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:46788200-46825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:46788200-46841400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:46788600-46824200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr11:46788600-46840600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:46788800-46824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:46795200-46820400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:46796200-46807400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:46796400-46821400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46796400-46824600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:46796600-46808000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:46796600-46825800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:46796800-46808200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:46796800-46819600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:46796800-46820600	Strong transcription	Fetal Brain Female	brain
33	chr11:46796800-46820800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:46796800-46823800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:46796800-46824000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:46796800-46824200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:46796800-46824200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:46796800-46824400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:46796800-46824400	Strong transcription	Brain Germinal Matrix	brain
40	chr11:46796800-46824600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:46797000-46821600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:46797000-46824200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:46797000-46825200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:46797200-46824200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:46797200-46824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:46797200-46826000	Strong transcription	Dnd41	blood
47	chr11:46797400-46823800	Strong transcription	Osteobl	bone
48	chr11:46797400-46824400	Strong transcription	Placenta	Placenta
49	chr11:46797600-46815800	Strong transcription	HMEC	breast
50	chr11:46800200-46807800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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