Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48534472..48536847-chr2:48541135..48543354,2	MCF-7	breast:
2	chr2:48532704..48536258-chr2:48538581..48541257,5	K562	blood:

Variant related genes	Relation type
ENSG00000170802	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1509562	0.93[ASN][1000 genomes]
rs17037255	0.90[ASN][1000 genomes]
rs17397205	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4547574	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57729372	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62137000	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62138796	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62138798	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62138804	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138808	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62138810	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62138815	0.97[ASN][1000 genomes]
rs62138816	0.97[ASN][1000 genomes]
rs62138817	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545025	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545026	0.90[ASN][1000 genomes]
rs6738828	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72820413	0.87[ASN][1000 genomes]
rs72820414	0.87[ASN][1000 genomes]
rs7583112	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs959141	0.87[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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48528000-48539200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48530200-48540200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:48532200-48535000	Enhancers	HepG2	liver
5	chr2:48532800-48534600	Enhancers	HSMMtube	muscle
6	chr2:48533000-48534600	Enhancers	Adipose Nuclei	Adipose
7	chr2:48533000-48534800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:48533000-48539800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:48533200-48534800	Enhancers	Placenta	Placenta
10	chr2:48533600-48534800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:48533800-48534600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:48533800-48534600	Enhancers	Hela-S3	cervix
13	chr2:48533800-48534800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:48533800-48534800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:48534000-48534600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:48534200-48534600	Enhancers	NHDF-Ad	bronchial
17	chr2:48534400-48534800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:48534400-48538800	Weak transcription	NHEK	skin
19	chr2:48534400-48540200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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