Variant report

Variant	rs56087556
Chromosome Location	chr1:212452452-212452453
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212449889..212451870-chr1:212452202..212454178,2	K562	blood:
2	chr1:212446148..212447711-chr1:212451138..212453205,2	K562	blood:
3	chr1:212445933..212447648-chr1:212451138..212453935,2	K562	blood:
4	chr1:212449688..212453511-chr1:212455911..212459812,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157725	1.00[AMR][1000 genomes]
rs10465692	1.00[AMR][1000 genomes]
rs13375351	1.00[AMR][1000 genomes]
rs1663629	1.00[AMR][1000 genomes]
rs1774254	1.00[AMR][1000 genomes]
rs2921126	1.00[AMR][1000 genomes]
rs3121292	1.00[AMR][1000 genomes]
rs351389	1.00[AMR][1000 genomes]
rs351403	0.80[AFR][1000 genomes]
rs351411	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs351412	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs351415	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56056407	1.00[AMR][1000 genomes]
rs56160775	1.00[AMR][1000 genomes]
rs56909493	1.00[AMR][1000 genomes]
rs57517430	1.00[AMR][1000 genomes]
rs58193366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58843897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59354031	1.00[AMR][1000 genomes]
rs60404556	1.00[AMR][1000 genomes]
rs61460239	1.00[AMR][1000 genomes]
rs61682449	1.00[AMR][1000 genomes]
rs701909	1.00[AMR][1000 genomes]
rs74138106	1.00[AMR][1000 genomes]
rs74138118	1.00[AMR][1000 genomes]
rs74138120	1.00[AMR][1000 genomes]
rs74138121	1.00[AMR][1000 genomes]
rs74138123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138132	1.00[AMR][1000 genomes]
rs74138133	1.00[AMR][1000 genomes]
rs74138134	1.00[AMR][1000 genomes]
rs74138135	1.00[AMR][1000 genomes]
rs74138136	1.00[AMR][1000 genomes]
rs74138137	1.00[AMR][1000 genomes]
rs74138138	1.00[AMR][1000 genomes]
rs74138139	1.00[AMR][1000 genomes]
rs74140412	1.00[AMR][1000 genomes]
rs792432	1.00[AMR][1000 genomes]
rs811040	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr1:212446000-212457000	Weak transcription	Stomach Mucosa	stomach
2	chr1:212446000-212457600	Weak transcription	Fetal Brain Female	brain
3	chr1:212446200-212454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:212446400-212457200	Weak transcription	Fetal Heart	heart

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