Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56464641..56466230-chr2:56471449..56473593,2	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10188465	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490397	0.89[ASN][1000 genomes]
rs11125618	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12613716	0.91[ASN][1000 genomes]
rs12623053	0.97[ASN][1000 genomes]
rs12623278	0.91[ASN][1000 genomes]
rs12713316	0.89[ASN][1000 genomes]
rs12993884	0.89[ASN][1000 genomes]
rs12994087	0.90[ASN][1000 genomes]
rs13012528	0.89[ASN][1000 genomes]
rs13403828	0.91[ASN][1000 genomes]
rs13429808	0.91[ASN][1000 genomes]
rs1468914	0.98[ASN][1000 genomes]
rs17047656	0.89[ASN][1000 genomes]
rs17047684	0.91[ASN][1000 genomes]
rs17047705	0.96[ASN][1000 genomes]
rs35637593	0.91[ASN][1000 genomes]
rs6730327	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7563888	0.92[ASN][1000 genomes]
rs7576428	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588401	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590310	0.91[ASN][1000 genomes]
rs7591193	0.91[ASN][1000 genomes]
rs7591392	0.91[ASN][1000 genomes]
rs759615	0.88[ASN][1000 genomes]
rs7602551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653542	0.91[ASN][1000 genomes]
rs969301	0.90[ASN][1000 genomes]
rs969302	0.90[ASN][1000 genomes]
rs969303	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[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	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv874169	chr2:56383762-56473480	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56470400-56475400	Weak transcription	Psoas Muscle	Psoas
2	chr2:56471800-56472800	Enhancers	Fetal Heart	heart
3	chr2:56471800-56473000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:56472000-56472800	Enhancers	HMEC	breast
5	chr2:56472000-56473000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:56472000-56473000	Enhancers	HSMM	muscle
7	chr2:56472000-56473000	Enhancers	HSMMtube	muscle
8	chr2:56472400-56473000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:56472600-56475400	Weak transcription	Left Ventricle	heart
10	chr2:56472600-56476800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:56472600-56477600	Weak transcription	Fetal Intestine Small	intestine

Quick Search: