Variant report

Variant	rs7549717
Chromosome Location	chr1:212452822-212452823
allele	C/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: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11119889	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119896	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060363	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073991	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	1.00[ASN][1000 genomes]
rs12082507	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	1.00[ASN][1000 genomes]
rs12087923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	1.00[EUR][1000 genomes]
rs17042040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	1.00[EUR][1000 genomes]
rs376547	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737965	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs66522154	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67947916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68047079	1.00[ASN][1000 genomes]
rs72752328	1.00[ASN][1000 genomes]
rs72752361	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754313	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754324	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	1.00[ASN][1000 genomes]
rs7523303	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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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