Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:103577991-103578597	SK-N-SH	brain:	n/a	n/a
2	MAFK	chr1:103578190-103578458	HepG2	liver:	n/a	chr1:103578296-103578307 chr1:103578296-103578307 chr1:103578291-103578307
3	GATA3	chr1:103578212-103578412	SH-SY5Y	brain:	n/a	n/a
4	EP300	chr1:103578007-103578567	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
COL11A1	TF binding region

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11164671	1.00[EUR][1000 genomes]
rs11164674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164688	1.00[EUR][1000 genomes]
rs11164691	1.00[EUR][1000 genomes]
rs11164692	1.00[EUR][1000 genomes]
rs11164700	1.00[EUR][1000 genomes]
rs12057475	1.00[EUR][1000 genomes]
rs12063514	1.00[EUR][1000 genomes]
rs12067382	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12074511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088375	1.00[EUR][1000 genomes]
rs12094397	1.00[EUR][1000 genomes]
rs12096038	1.00[EUR][1000 genomes]
rs57273500	1.00[EUR][1000 genomes]
rs57416339	1.00[EUR][1000 genomes]
rs57811182	1.00[EUR][1000 genomes]
rs72987884	1.00[EUR][1000 genomes]
rs72987888	1.00[EUR][1000 genomes]
rs72989819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108574	1.00[EUR][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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103574600-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:103575200-103578400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:103575200-103578600	Enhancers	HSMM	muscle
4	chr1:103575200-103579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:103575800-103578600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:103575800-103578600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:103576200-103578400	Enhancers	HMEC	breast
8	chr1:103577200-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:103577200-103579200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:103577400-103578400	Enhancers	HUVEC	blood vessel
11	chr1:103577600-103578600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:103577600-103578600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:103577600-103578600	Enhancers	Osteobl	bone
14	chr1:103577800-103578400	Enhancers	HSMMtube	muscle
15	chr1:103578200-103578400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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