Variant report

Variant	rs2746547
Chromosome Location	chr11:33570128-33570129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12803487	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1535063	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1547068	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1883916	0.85[ASN][1000 genomes]
rs2065038	0.83[AMR][1000 genomes]
rs2076623	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2076627	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2092617	0.95[ASN][1000 genomes]
rs2208630	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2615928	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2615930	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2615931	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2615932	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2615934	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2615938	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2615940	0.81[AMR][1000 genomes]
rs2746548	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2746551	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2746552	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2756272	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2756273	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2756274	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2756275	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2756281	0.84[ASN][1000 genomes]
rs2756282	0.81[ASN][1000 genomes]
rs4755192	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6484657	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs730729	0.87[ASN][1000 genomes]
rs7479704	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7929102	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1041680	chr11:33249367-33637249	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv540997	chr11:33249367-33637249	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
2	chr11:33563200-33585200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:33564800-33585000	Weak transcription	Brain Anterior Caudate	brain
4	chr11:33565200-33583600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:33566400-33571200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:33566800-33581000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:33567000-33578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:33567000-33579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:33567000-33581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:33567200-33576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:33567600-33574800	Weak transcription	HSMM	muscle
12	chr11:33568000-33570200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:33568000-33572400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:33568000-33574200	Weak transcription	NH-A	brain
15	chr11:33568000-33574600	Weak transcription	HMEC	breast
16	chr11:33568200-33606600	Weak transcription	HUVEC	blood vessel
17	chr11:33568400-33575200	Weak transcription	NHDF-Ad	bronchial
18	chr11:33568400-33578400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:33568400-33578400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:33568400-33578400	Weak transcription	Osteobl	bone
21	chr11:33568400-33578600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:33568600-33576800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:33568800-33570400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:33568800-33570800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:33569000-33571000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:33569200-33570800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:33569200-33572400	Weak transcription	HSMMtube	muscle
28	chr11:33569400-33577600	Weak transcription	Fetal Brain Female	brain
29	chr11:33569400-33578400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:33569400-33578400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:33569600-33571000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:33569600-33574800	Weak transcription	Brain Germinal Matrix	brain
33	chr11:33569600-33578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:33569800-33605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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