Variant report

Variant	rs56085986
Chromosome Location	chr1:212776462-212776463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212748822..212751365-chr1:212774551..212777255,2	K562	blood:
2	chr1:212641315..212643448-chr1:212775149..212777804,2	K562	blood:
3	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000260805	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11801740	1.00[EUR][1000 genomes]
rs11802845	1.00[EUR][1000 genomes]
rs11807916	1.00[EUR][1000 genomes]
rs12739715	1.00[ASN][1000 genomes]
rs1284800	1.00[ASN][1000 genomes]
rs17019266	1.00[ASN][1000 genomes]
rs17019397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17019640	1.00[EUR][1000 genomes]
rs17019657	1.00[EUR][1000 genomes]
rs2007776	1.00[ASN][1000 genomes]
rs2456815	1.00[ASN][1000 genomes]
rs3001261	1.00[ASN][1000 genomes]
rs492231	1.00[ASN][1000 genomes]
rs498564	1.00[ASN][1000 genomes]
rs55787749	1.00[EUR][1000 genomes]
rs55827218	1.00[EUR][1000 genomes]
rs56396668	1.00[EUR][1000 genomes]
rs58402000	1.00[AMR][1000 genomes]
rs58725225	1.00[EUR][1000 genomes]
rs593750	1.00[ASN][1000 genomes]
rs60334006	1.00[EUR][1000 genomes]
rs641053	1.00[ASN][1000 genomes]
rs648577	1.00[ASN][1000 genomes]
rs6657898	1.00[AMR][1000 genomes]
rs6675972	1.00[EUR][1000 genomes]
rs6680374	1.00[ASN][1000 genomes]
rs6685348	1.00[EUR][1000 genomes]
rs6700258	1.00[EUR][1000 genomes]
rs71646161	1.00[ASN][1000 genomes]
rs74138553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138622	1.00[EUR][1000 genomes]
rs74138623	1.00[EUR][1000 genomes]
rs74138629	1.00[EUR][1000 genomes]
rs74138630	1.00[EUR][1000 genomes]
rs74138631	1.00[EUR][1000 genomes]
rs74138632	1.00[EUR][1000 genomes]
rs74138633	1.00[EUR][1000 genomes]
rs74138636	1.00[EUR][1000 genomes]
rs74138700	1.00[EUR][1000 genomes]
rs74140027	1.00[EUR][1000 genomes]
rs74140030	1.00[EUR][1000 genomes]
rs74140031	1.00[EUR][1000 genomes]
rs74140032	1.00[EUR][1000 genomes]
rs74141106	1.00[EUR][1000 genomes]
rs7511916	1.00[EUR][1000 genomes]
rs7530106	1.00[ASN][1000 genomes]
rs7549085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551910	1.00[ASN][1000 genomes]
rs7551969	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	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212770200-212778600	Weak transcription	Aorta	Aorta
2	chr1:212771000-212778200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212771200-212779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:212774200-212778000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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