Variant report

Variant	rs57849329
Chromosome Location	chr1:45612908-45612909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45601104..45604532-chr1:45609883..45613262,3	K562	blood:
2	chr1:45604686..45606706-chr1:45610501..45612917,2	K562	blood:
3	chr1:45612052..45614882-chr1:45615056..45616964,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55737255	1.00[AMR][1000 genomes]
rs55871654	1.00[AMR][1000 genomes]
rs55996831	1.00[AMR][1000 genomes]
rs56139314	1.00[AMR][1000 genomes]
rs56229368	1.00[AMR][1000 genomes]
rs56858212	1.00[AMR][1000 genomes]
rs58030745	1.00[AMR][1000 genomes]
rs58301056	1.00[AMR][1000 genomes]
rs59764137	1.00[AMR][1000 genomes]
rs59888189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60219606	1.00[AMR][1000 genomes]
rs61564383	1.00[AMR][1000 genomes]
rs74070844	1.00[AMR][1000 genomes]
rs74070852	1.00[AMR][1000 genomes]
rs74070854	1.00[AMR][1000 genomes]
rs74070855	1.00[AMR][1000 genomes]
rs74070867	1.00[AMR][1000 genomes]
rs74070875	1.00[AMR][1000 genomes]
rs74070878	1.00[AMR][1000 genomes]
rs74070879	1.00[AMR][1000 genomes]
rs74070880	1.00[AMR][1000 genomes]
rs74070881	1.00[AMR][1000 genomes]
rs74070883	1.00[AMR][1000 genomes]
rs74070891	1.00[AMR][1000 genomes]
rs74070896	1.00[AMR][1000 genomes]
rs74070899	1.00[AMR][1000 genomes]
rs74070900	1.00[AMR][1000 genomes]
rs74070901	1.00[AMR][1000 genomes]
rs74072212	1.00[AMR][1000 genomes]
rs74072213	1.00[AMR][1000 genomes]
rs74072217	1.00[AMR][1000 genomes]
rs74072218	1.00[AMR][1000 genomes]
rs74072221	1.00[AMR][1000 genomes]
rs74072224	1.00[AMR][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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:45590000-45627000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45601000-45613400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:45607800-45613400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:45608000-45614200	Weak transcription	Ovary	ovary
5	chr1:45611800-45613800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:45611800-45617600	Weak transcription	Aorta	Aorta
7	chr1:45612400-45614400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:45612400-45614600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:45612600-45613400	Weak transcription	Brain Germinal Matrix	brain
10	chr1:45612600-45614400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:45612800-45613400	Weak transcription	NHDF-Ad	bronchial

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