Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:114459805..114462342-chr1:114881875..114884807,2	K562	blood:
2	chr1:114350122..114352363-chr1:114460865..114462915,2	MCF-7	breast:
3	chr1:114453526..114463040-chr1:114468902..114474133,15	K562	blood:

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000235527	Chromatin interaction

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

rs_ID	r²[population]
rs10494162	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11102703	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102706	0.85[ASN][1000 genomes]
rs11102708	0.84[ASN][1000 genomes]
rs11102709	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12060750	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12127377	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12129050	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217444	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1503832	0.89[ASN][1000 genomes]
rs1553449	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1553450	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17852555	0.83[ASN][1000 genomes]
rs1910485	0.89[ASN][1000 genomes]
rs1985435	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985436	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41302825	0.83[ASN][1000 genomes]
rs6537800	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6669370	0.83[ASN][1000 genomes]
rs6674384	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7519860	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7545300	0.83[ASN][1000 genomes]
rs7546851	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs756493	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs878129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS 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	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12125546	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114449200-114461800	Weak transcription	Fetal Brain Male	brain
2	chr1:114449800-114470400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:114455600-114461800	Weak transcription	NH-A	brain
4	chr1:114455800-114465400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:114456000-114462200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:114456000-114462800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:114456000-114463600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:114456200-114465400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:114456200-114470400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:114456200-114470600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:114456200-114471200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:114456400-114470400	Weak transcription	HSMM	muscle
13	chr1:114457200-114470600	Weak transcription	Primary T cells from cord blood	blood
14	chr1:114457600-114470400	Weak transcription	Fetal Thymus	thymus
15	chr1:114459200-114470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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