Variant report

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:40813100-40813250	AG04450	lung:	n/a	n/a
2	POLR2A	chr21:40813119-40813189	MCF-7	breast:	n/a	n/a
3	SMC3	chr21:40812876-40813953	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr21:40813140-40813290	AoAF	blood vessel:	n/a	n/a
5	CTCF	chr21:40813150-40813172	GM10248	blood:	n/a	n/a
6	CTCF	chr21:40813160-40813310	GM12870	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40806088..40810379-chr21:40811300..40813801,4	MCF-7	breast:
2	chr21:40759186..40760805-chr21:40811887..40813577,2	K562	blood:
3	chr21:40177677..40179381-chr21:40812548..40814050,2	K562	blood:
4	chr21:40808402..40815127-chr21:40815513..40821149,12	K562	blood:
5	chr21:40757952..40760815-chr21:40812863..40817486,4	MCF-7	breast:
6	21:40748850-40752541..21:40812812-40815481	K562	blood:
7	chr21:40812406..40815051-chr21:40815498..40817690,4	K562	blood:
8	chr21:40808329..40812009-chr21:40812185..40815067,5	K562	blood:
9	chr21:40719600..40723122-chr21:40811701..40815528,3	K562	blood:
10	chr21:40685795..40687913-chr21:40812651..40815254,2	K562	blood:
11	chr21:40760349..40761906-chr21:40811512..40813865,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16997735	1.00[EUR][1000 genomes]
rs16997736	1.00[EUR][1000 genomes]
rs17406223	1.00[EUR][1000 genomes]
rs56666138	1.00[AMR][1000 genomes]
rs61100936	1.00[EUR][1000 genomes]
rs73354299	1.00[EUR][1000 genomes]
rs73354302	1.00[EUR][1000 genomes]
rs73356009	1.00[EUR][1000 genomes]
rs73356012	1.00[EUR][1000 genomes]
rs73356014	1.00[EUR][1000 genomes]
rs73356017	1.00[EUR][1000 genomes]
rs73361751	1.00[AMR][1000 genomes]
rs73361792	1.00[AMR][1000 genomes]
rs73361795	1.00[AMR][1000 genomes]
rs73361797	1.00[AMR][1000 genomes]
rs73364006	1.00[AMR][1000 genomes]
rs73364007	1.00[AMR][1000 genomes]
rs73364011	1.00[AMR][1000 genomes]
rs73364012	1.00[AMR][1000 genomes]
rs73364016	1.00[AMR][1000 genomes]
rs73364018	1.00[AMR][1000 genomes]
rs73364021	1.00[AMR][1000 genomes]
rs73364023	1.00[AMR][1000 genomes]
rs73364027	1.00[AMR][1000 genomes]
rs73364030	1.00[AMR][1000 genomes]
rs73364031	1.00[AMR][1000 genomes]
rs73364045	1.00[EUR][1000 genomes]
rs73365919	1.00[EUR][1000 genomes]
rs73365937	1.00[EUR][1000 genomes]
rs73367937	1.00[EUR][1000 genomes]
rs73367969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367982	1.00[EUR][1000 genomes]
rs73367997	1.00[EUR][1000 genomes]
rs73370019	1.00[EUR][1000 genomes]
rs73370028	1.00[EUR][1000 genomes]
rs73370036	1.00[EUR][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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking 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 miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
2	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
3	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
4	chr21:40802000-40813800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:40802600-40816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:40802600-40816600	Weak transcription	Right Atrium	heart
7	chr21:40802800-40814000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:40809200-40813800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:40809400-40816400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr21:40809800-40816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr21:40811600-40816600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:40812600-40816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:40813000-40814800	Enhancers	HSMM	muscle
14	chr21:40813000-40815400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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