Variant report

Variant	rs11484717
Chromosome Location	chr1:227521960-227521961
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227504519..227508787-chr1:227521188..227524866,7	K562	blood:
2	chr1:227512596..227514265-chr1:227521863..227524248,2	K562	blood:
3	chr1:227521100..227522891-chr1:227528469..227530214,2	K562	blood:
4	chr1:227515846..227518082-chr1:227521897..227524697,2	MCF-7	breast:
5	chr1:227502332..227510114-chr1:227516981..227526964,21	K562	blood:
6	chr1:227510624..227512509-chr1:227521394..227523406,2	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10916123	0.85[ASN][1000 genomes]
rs10916124	0.85[ASN][1000 genomes]
rs10916127	0.83[ASN][1000 genomes]
rs10916128	0.81[ASN][1000 genomes]
rs12022275	0.85[ASN][1000 genomes]
rs12047964	0.80[ASN][1000 genomes]
rs12081061	0.85[ASN][1000 genomes]
rs12085773	0.94[ASN][1000 genomes]
rs28654860	0.88[ASN][1000 genomes]
rs4233226	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653826	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653828	0.85[ASN][1000 genomes]
rs59718661	0.84[ASN][1000 genomes]
rs67343057	0.82[ASN][1000 genomes]
rs72632826	0.80[AMR][1000 genomes]
rs7519870	0.80[ASN][1000 genomes]
rs7540726	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7540833	0.83[ASN][1000 genomes]
rs7541775	0.85[ASN][1000 genomes]
rs7553358	0.80[ASN][1000 genomes]
rs7556096	0.85[ASN][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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227512000-227523200	Weak transcription	Stomach Mucosa	stomach
2	chr1:227521200-227522000	Enhancers	K562	blood
3	chr1:227521600-227531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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