Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180676125..180678431-chr2:180681304..180683534,2	K562	blood:

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12328338	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13418648	0.81[EUR][1000 genomes]
rs1486233	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165373	0.96[ASN][1000 genomes]
rs165374	0.89[ASN][1000 genomes]
rs16867045	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2219670	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28520865	0.97[ASN][1000 genomes]
rs55869281	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56152328	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6433810	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433811	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6752731	0.96[ASN][1000 genomes]
rs7557122	0.97[ASN][1000 genomes]
rs7585592	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7597666	0.97[ASN][1000 genomes]
rs7601013	0.80[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180682000-180682800	Enhancers	Hela-S3	cervix
2	chr2:180682200-180682600	Enhancers	Colon Smooth Muscle	Colon
3	chr2:180682200-180682600	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr2:180682200-180682600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr2:180682200-180682600	Enhancers	Spleen	Spleen
6	chr2:180682200-180682800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:180682200-180682800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:180682200-180682800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:180682400-180682600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:180682400-180682600	ZNF genes & repeats	Aorta	Aorta
11	chr2:180682400-180682600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:180682400-180682800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:180682400-180682800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:180682400-180682800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:180682400-180682800	Flanking Active TSS	Liver	Liver
16	chr2:180682400-180682800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:180682400-180682800	Enhancers	Esophagus	oesophagus
18	chr2:180682400-180682800	Enhancers	Gastric	stomach
19	chr2:180682400-180682800	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:180682400-180682800	Enhancers	NHDF-Ad	bronchial
21	chr2:180682400-180683000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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