Variant report

Variant	rs11717373
Chromosome Location	chr3:21747283-21747284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62237385	1.00[ASN][1000 genomes]
rs62237405	1.00[ASN][1000 genomes]
rs62237420	1.00[ASN][1000 genomes]
rs62239387	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11717373	FOXP1	trans	multi-tissue	Pritchard

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21732800-21757600	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:21737800-21753600	Weak transcription	Aorta	Aorta
3	chr3:21745000-21748200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:21745600-21748600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:21746200-21748600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:21746400-21748000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:21746400-21748600	Enhancers	HMEC	breast
8	chr3:21746400-21749000	Enhancers	NHDF-Ad	bronchial
9	chr3:21747000-21747400	Enhancers	Osteobl	bone
10	chr3:21747000-21747600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:21747000-21747600	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:21747000-21747800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:21747000-21747800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:21747000-21747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:21747000-21748000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:21747000-21748000	Enhancers	Hela-S3	cervix
17	chr3:21747000-21748200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:21747000-21748200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:21747000-21748200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:21747200-21747600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:21747200-21747600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:21747200-21747600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:21747200-21747600	Enhancers	Adipose Nuclei	Adipose
24	chr3:21747200-21747600	Enhancers	Brain Angular Gyrus	brain
25	chr3:21747200-21747600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:21747200-21747600	Enhancers	Gastric	stomach
27	chr3:21747200-21747600	Enhancers	Left Ventricle	heart
28	chr3:21747200-21747600	Enhancers	Pancreas	Pancrea
29	chr3:21747200-21747600	Enhancers	Psoas Muscle	Psoas
30	chr3:21747200-21747600	Enhancers	Right Atrium	heart
31	chr3:21747200-21747600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:21747200-21747600	Enhancers	Spleen	Spleen
33	chr3:21747200-21747600	Enhancers	HSMM	muscle
34	chr3:21747200-21747800	Enhancers	NH-A	brain
35	chr3:21747200-21748400	Enhancers	NHLF	lung

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