Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39938168..39939735-chr2:39943437..39945317,2	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]
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	0.86[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]
rs990405	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];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

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

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	chr2:39931400-39941200	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:39931400-39957600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:39931600-39945800	Weak transcription	Aorta	Aorta
6	chr2:39934600-39941800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:39936600-39941600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:39936600-39950600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:39936800-39939800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:39936800-39942200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:39937400-39948400	Weak transcription	Fetal Heart	heart
12	chr2:39938000-39941600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:39938000-39957600	Weak transcription	Fetal Brain Female	brain
14	chr2:39938200-39943200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:39938200-39950600	Weak transcription	HSMMtube	muscle
16	chr2:39938400-39950000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:39938800-39947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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