Variant report

Variant	rs7126544
Chromosome Location	chr11:73227915-73227916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73222148..73225498-chr11:73227399..73230635,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12146658	0.86[AFR][1000 genomes]
rs12287163	0.88[AFR][1000 genomes]
rs55857389	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56045329	0.89[AFR][1000 genomes]
rs56091126	0.89[AMR][1000 genomes]
rs56128908	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56135026	0.86[AFR][1000 genomes]
rs56172105	0.89[AMR][1000 genomes]
rs56317898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960575	0.89[AMR][1000 genomes]
rs58602796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59151156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104483	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7105000	0.86[AFR][1000 genomes]
rs7118920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120131	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7120967	0.81[YRI][hapmap]
rs7928848	0.94[YRI][hapmap]
rs7929493	0.89[AMR][1000 genomes]
rs7932197	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7933274	0.86[AFR][1000 genomes]
rs7937197	0.89[AMR][1000 genomes]
rs7945984	1.00[YRI][hapmap];0.86[AFR][1000 genomes]

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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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 target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
2	chr11:73182000-73230000	Weak transcription	Dnd41	blood
3	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
5	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
7	chr11:73206200-73232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:73210200-73231400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:73215600-73232200	Weak transcription	A549	lung
10	chr11:73217400-73231400	Weak transcription	Primary T cells from cord blood	blood
11	chr11:73218600-73232600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:73219000-73231400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:73219000-73232200	Weak transcription	Osteobl	bone
14	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:73219600-73232200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:73219800-73230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:73220000-73232200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:73220400-73231800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:73220400-73231800	Weak transcription	Brain Germinal Matrix	brain
20	chr11:73221200-73238000	Weak transcription	Psoas Muscle	Psoas
21	chr11:73221400-73232400	Weak transcription	Hela-S3	cervix
22	chr11:73221400-73238200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:73221600-73231800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:73221800-73239600	Weak transcription	Liver	Liver
25	chr11:73222200-73232400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:73222400-73228800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:73222400-73230200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:73222400-73231600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:73223000-73229000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:73223000-73232600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:73224200-73231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:73224400-73228200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:73224400-73230000	Weak transcription	GM12878-XiMat	blood
34	chr11:73224800-73228800	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:73226000-73230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:73226200-73232400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:73226400-73231600	Weak transcription	Fetal Thymus	thymus
38	chr11:73226400-73239600	Weak transcription	Fetal Stomach	stomach

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