Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50907927..50911991-chr13:50914729..50916836,3	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12864797	0.81[AFR][1000 genomes]
rs12874278	0.81[AFR][1000 genomes]
rs12874827	0.83[AFR][1000 genomes]
rs17363566	0.81[AFR][1000 genomes]
rs706604	1.00[EUR][1000 genomes]
rs73495882	1.00[EUR][1000 genomes]
rs73495892	1.00[EUR][1000 genomes]
rs73495894	1.00[EUR][1000 genomes]
rs73498021	1.00[EUR][1000 genomes]
rs73498033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806304	1.00[EUR][1000 genomes]
rs806307	1.00[EUR][1000 genomes]
rs806310	1.00[EUR][1000 genomes]
rs806329	1.00[EUR][1000 genomes]
rs806333	1.00[EUR][1000 genomes]
rs806340	1.00[EUR][1000 genomes]
rs806342	1.00[EUR][1000 genomes]
rs806343	1.00[EUR][1000 genomes]
rs806345	1.00[EUR][1000 genomes]
rs806347	1.00[EUR][1000 genomes]
rs806350	1.00[EUR][1000 genomes]
rs806351	1.00[EUR][1000 genomes]
rs806358	1.00[EUR][1000 genomes]
rs812607	1.00[EUR][1000 genomes]
rs9596241	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50909200-50918600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr13:50912600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr13:50913000-50916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:50913000-50921000	Weak transcription	HepG2	liver
5	chr13:50913800-50916000	Enhancers	Fetal Muscle Leg	muscle
6	chr13:50915000-50917600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:50915000-50928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:50915200-50916000	Enhancers	Brain Substantia Nigra	brain
9	chr13:50915800-50916000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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