Variant report

Variant	rs613464
Chromosome Location	chr1:212725010-212725011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212719262..212723059-chr1:212724838..212729045,5	K562	blood:
2	chr1:212724351..212727586-chr1:212779845..212784036,5	K562	blood:
3	chr1:212722240..212729141-chr1:212779289..212785767,9	K562	blood:
4	chr1:212707122..212709116-chr1:212724136..212725758,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2456824	1.00[AMR][1000 genomes]
rs2456826	1.00[AMR][1000 genomes]
rs2501843	1.00[AMR][1000 genomes]
rs2840386	1.00[AMR][1000 genomes]
rs2970541	1.00[AMR][1000 genomes]
rs504361	1.00[AMR][1000 genomes]
rs525552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs546035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565014	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs580570	1.00[AMR][1000 genomes]
rs581751	1.00[AMR][1000 genomes]
rs600959	1.00[AMR][1000 genomes]
rs609614	1.00[AMR][1000 genomes]
rs611119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs613477	1.00[AMR][1000 genomes]
rs615521	1.00[AMR][1000 genomes]
rs634906	1.00[AMR][1000 genomes]
rs644143	1.00[AMR][1000 genomes]
rs650703	1.00[AMR][1000 genomes]
rs654256	1.00[AMR][1000 genomes]
rs665435	1.00[AMR][1000 genomes]
rs681533	1.00[AMR][1000 genomes]
rs791852	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9429892	1.00[AMR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 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	chr1:212718600-212731400	Weak transcription	Right Atrium	heart
2	chr1:212720400-212725200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:212723200-212725600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr1:212723400-212725200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:212723600-212725200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:212723600-212725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:212723600-212727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212723600-212730800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:212724800-212725800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:212724800-212725800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:212725000-212726000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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