Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55077644..55080366-chr2:55082902..55084991,2	K562	blood:

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17046413	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671978	0.85[EUR][1000 genomes]
rs4671981	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4671982	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60808665	0.90[AFR][1000 genomes]
rs723975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs919669	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv457930	chr2:55073428-55091029	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv582028	chr2:55073428-55091029	Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:55072600-55091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:55078000-55086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:55078000-55087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:55078200-55087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:55081400-55085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:55082600-55085000	Weak transcription	Hela-S3	cervix
14	chr2:55083000-55084800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55083200-55084800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:55083400-55085000	Weak transcription	Osteobl	bone
17	chr2:55083400-55086000	Weak transcription	HSMM	muscle
18	chr2:55083600-55085400	Weak transcription	NHDF-Ad	bronchial
19	chr2:55084400-55087000	Enhancers	HepG2	liver
20	chr2:55084400-55088800	Enhancers	HSMMtube	muscle

Quick Search: