Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86422237..86423747-chr2:86562559..86564958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273080	Chromatin interaction
ENSG00000132305	Chromatin interaction

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12471787	0.81[AMR][1000 genomes]
rs12714181	0.81[AFR][1000 genomes]
rs13005269	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs766285	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4430958	VPS24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86533200-86563000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:86537600-86563000	Weak transcription	Brain Anterior Caudate	brain
3	chr2:86549200-86563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:86552200-86563800	Weak transcription	Aorta	Aorta
5	chr2:86555400-86563200	Weak transcription	Spleen	Spleen
6	chr2:86558600-86563000	Weak transcription	Pancreas	Pancrea
7	chr2:86559200-86563000	Enhancers	Fetal Brain Male	brain
8	chr2:86559600-86563000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:86559800-86563000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:86560200-86563000	Weak transcription	Psoas Muscle	Psoas
11	chr2:86560200-86563000	Weak transcription	Right Atrium	heart
12	chr2:86560200-86563000	Weak transcription	Right Ventricle	heart
13	chr2:86560200-86563000	Weak transcription	HSMMtube	muscle
14	chr2:86561400-86563000	Weak transcription	Left Ventricle	heart
15	chr2:86562200-86563000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:86562400-86563200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:86562400-86563200	Enhancers	Fetal Heart	heart
18	chr2:86562400-86565000	Active TSS	Fetal Brain Female	brain
19	chr2:86562600-86563000	Active TSS	Brain Angular Gyrus	brain
20	chr2:86562600-86563000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
21	chr2:86562600-86563000	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:86562600-86563000	Enhancers	Hela-S3	cervix

Quick Search: