Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:152703492..152705202-chr2:152705696..152708446,2	K562	blood:
2	chr2:152686310..152687943-chr2:152704557..152706509,2	MCF-7	breast:
3	chr2:152701172..152703460-chr2:152705027..152707300,2	MCF-7	breast:
4	chr2:152540559..152543086-chr2:152704244..152707063,2	K562	blood:

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12624108	1.00[EUR][1000 genomes]
rs16830417	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3754533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3768654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4077123	1.00[EUR][1000 genomes]
rs59269531	1.00[EUR][1000 genomes]
rs72621646	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72621648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72621649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking 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 miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152685600-152709600	Weak transcription	Fetal Brain Female	brain
2	chr2:152695000-152732600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:152698800-152708400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:152699800-152742000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:152700000-152709000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:152700000-152710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:152700000-152713000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:152700000-152731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:152700000-152732600	Weak transcription	Right Atrium	heart
10	chr2:152700200-152708400	Weak transcription	Left Ventricle	heart
11	chr2:152701200-152706200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:152702600-152709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:152702800-152706200	Weak transcription	Fetal Heart	heart
14	chr2:152705600-152706200	Enhancers	Fetal Intestine Small	intestine
15	chr2:152705600-152706400	Enhancers	Stomach Mucosa	stomach
16	chr2:152705800-152706200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:152705800-152706200	Enhancers	Colonic Mucosa	Colon
18	chr2:152705800-152706400	Enhancers	A549	lung
19	chr2:152706000-152706400	Enhancers	Gastric	stomach
20	chr2:152706000-152706600	Flanking Active TSS	HepG2	liver

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