Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:39933275..39938077-chr2:39941902..39946482,5	K562	blood:
2	chr2:39933975..39935553-chr2:39935645..39937613,2	MCF-7	breast:
3	chr2:39931730..39934991-chr2:39935241..39938593,3	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10193803	1.00[JPT][hapmap]
rs13423235	1.00[JPT][hapmap]
rs17024197	1.00[ASN][1000 genomes]
rs17024202	1.00[ASN][1000 genomes]
rs17024218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024232	1.00[ASN][1000 genomes]
rs2540243	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2540245	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2716698	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2716700	1.00[ASN][1000 genomes]
rs2716702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2716709	1.00[ASN][1000 genomes]
rs2716733	1.00[ASN][1000 genomes]
rs56104365	1.00[ASN][1000 genomes]
rs58054718	1.00[ASN][1000 genomes]
rs6738748	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72934285	1.00[ASN][1000 genomes]
rs72934295	1.00[ASN][1000 genomes]
rs72936030	1.00[ASN][1000 genomes]
rs72936034	1.00[ASN][1000 genomes]
rs72936037	1.00[ASN][1000 genomes]
rs72936041	1.00[ASN][1000 genomes]
rs72936044	1.00[ASN][1000 genomes]
rs72936047	1.00[ASN][1000 genomes]
rs72936048	1.00[ASN][1000 genomes]
rs72936053	1.00[ASN][1000 genomes]
rs72936058	1.00[ASN][1000 genomes]
rs73924940	1.00[ASN][1000 genomes]
rs73927043	1.00[ASN][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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39925000-39957600	Weak transcription	Fetal Stomach	stomach
2	chr2:39925200-39950000	Weak transcription	Left Ventricle	heart
3	chr2:39931400-39937600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:39931400-39941200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:39931400-39957600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:39931600-39945800	Weak transcription	Aorta	Aorta
7	chr2:39933400-39936800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39934400-39936800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:39934600-39941800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:39935000-39938200	Strong transcription	HSMMtube	muscle
11	chr2:39935800-39936600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:39936000-39939200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:39936200-39936600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:39936200-39936600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:39936200-39936800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:39936400-39936600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:39936400-39938000	Strong transcription	Fetal Brain Female	brain

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