Variant report

Variant	rs60949054
Chromosome Location	chr8:20315246-20315247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20315158..20318143-chr8:20322413..20324006,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10112289	1.00[EUR][1000 genomes]
rs1026962	1.00[EUR][1000 genomes]
rs12114223	1.00[EUR][1000 genomes]
rs17092255	1.00[EUR][1000 genomes]
rs17092285	1.00[EUR][1000 genomes]
rs17092525	1.00[EUR][1000 genomes]
rs17092648	1.00[EUR][1000 genomes]
rs17116648	1.00[EUR][1000 genomes]
rs4330706	1.00[EUR][1000 genomes]
rs57350066	1.00[EUR][1000 genomes]
rs58021006	1.00[EUR][1000 genomes]
rs60973888	1.00[EUR][1000 genomes]
rs6985545	1.00[EUR][1000 genomes]
rs7003050	1.00[EUR][1000 genomes]
rs7004136	1.00[EUR][1000 genomes]
rs7012806	1.00[EUR][1000 genomes]
rs7015313	1.00[EUR][1000 genomes]
rs7017244	1.00[EUR][1000 genomes]
rs7017444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018201	1.00[EUR][1000 genomes]
rs73607619	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73607621	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73607627	1.00[EUR][1000 genomes]
rs73607631	1.00[EUR][1000 genomes]
rs73607698	1.00[EUR][1000 genomes]
rs73609138	1.00[EUR][1000 genomes]
rs73609140	1.00[EUR][1000 genomes]
rs73609141	1.00[EUR][1000 genomes]
rs73609174	1.00[EUR][1000 genomes]
rs73617815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7459906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813418	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20312800-20316000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:20313600-20316200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:20313600-20317800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:20314200-20317800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:20314600-20315400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:20314600-20316000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:20314600-20317800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:20314800-20315400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:20314800-20315600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:20314800-20316000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:20314800-20316800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:20314800-20317200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:20315000-20316200	Enhancers	Stomach Smooth Muscle	stomach
14	chr8:20315200-20315600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:20315200-20318000	Enhancers	H9 Cell Line	embryonic stem cell

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