Variant report

Variant	rs74140512
Chromosome Location	chr1:213020845-213020846
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	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:

Variant related genes	Relation type
ENSG00000198468	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11799556	1.00[AMR][1000 genomes]
rs11801740	1.00[EUR][1000 genomes]
rs11801900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17019770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41296716	1.00[EUR][1000 genomes]
rs41300963	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55787749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55827218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56012560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60267007	1.00[EUR][1000 genomes]
rs60334006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675972	1.00[EUR][1000 genomes]
rs6684313	1.00[AMR][1000 genomes]
rs6685348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140504	1.00[EUR][1000 genomes]
rs74140506	1.00[EUR][1000 genomes]
rs74140507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7511916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7523527	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7538679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551472	1.00[AMR][1000 genomes]
rs7551969	1.00[AMR][1000 genomes];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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213020600-213021600	Enhancers	HepG2	liver

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