Variant report

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227615435-227618163	HUVEC	blood vessel:	n/a	n/a
2	TCF12	chr1:227616062-227617912	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227502664..227506000-chr1:227614343..227617571,3	K562	blood:
2	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
3	chr1:227615713..227617312-chr1:227617551..227620408,2	K562	blood:
4	chr1:227614393..227617213-chr1:227617551..227619709,2	K562	blood:
5	chr1:227545250..227546932-chr1:227614922..227616911,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12025219	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12124322	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12125212	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125342	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12129915	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12132916	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12745048	0.86[AMR][1000 genomes];0.81[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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv873243	chr1:227581017-227617519	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227612600-227616200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:227612800-227616400	Weak transcription	Left Ventricle	heart
3	chr1:227613000-227616400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:227615200-227617200	Enhancers	K562	blood
5	chr1:227615200-227619400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:227615200-227619600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:227615400-227619400	Enhancers	Brain Anterior Caudate	brain
9	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:227615600-227617800	Enhancers	Fetal Kidney	kidney
11	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:227616000-227616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:227616000-227617400	Enhancers	Aorta	Aorta
14	chr1:227616000-227617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:227616000-227617800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:227616000-227618000	Enhancers	Fetal Stomach	stomach
17	chr1:227616000-227618000	Flanking Active TSS	A549	lung
18	chr1:227616000-227618200	Flanking Active TSS	HUVEC	blood vessel
19	chr1:227616000-227618400	Bivalent Enhancer	HepG2	liver
20	chr1:227616000-227618800	Enhancers	Brain Angular Gyrus	brain
21	chr1:227616000-227619200	Enhancers	Brain Substantia Nigra	brain
22	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle

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