Variant report

Variant	rs11579725
Chromosome Location	chr1:228201304-228201305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228200861..228203329-chr1:228205656..228207214,2	MCF-7	breast:
2	chr1:228193376..228197148-chr1:228201050..228204758,3	K562	blood:
3	chr1:228193016..228195089-chr1:228200494..228203250,2	K562	blood:
4	chr1:228195432..228198403-chr1:228200183..228201767,2	K562	blood:
5	chr1:228199664..228202936-chr1:228261979..228265639,3	MCF-7	breast:
6	chr1:228199716..228201397-chr1:228206877..228209094,2	K562	blood:
7	chr1:228201206..228204179-chr1:228209528..228212041,2	MCF-7	breast:
8	chr1:228194409..228196147-chr1:228198747..228201814,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154342	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10916262	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11577983	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11578623	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11579417	0.82[EUR][1000 genomes]
rs11580654	0.84[EUR][1000 genomes]
rs11580665	0.82[EUR][1000 genomes]
rs11581915	0.82[EUR][1000 genomes]
rs11584128	0.82[EUR][1000 genomes]
rs11587069	0.82[EUR][1000 genomes]
rs11589007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11589040	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11589467	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11589513	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11590118	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12048010	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1342351	0.89[EUR][1000 genomes]
rs17621519	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1909647	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107905	0.84[EUR][1000 genomes]
rs35564923	0.82[EUR][1000 genomes]
rs35826486	0.86[EUR][1000 genomes]
rs41270175	0.82[AMR][1000 genomes]
rs4363416	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4546914	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653894	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4653895	0.94[EUR][1000 genomes]
rs56888086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56910872	0.82[EUR][1000 genomes]
rs57146523	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57292064	0.82[EUR][1000 genomes]
rs57536604	0.82[EUR][1000 genomes]
rs57556486	0.89[EUR][1000 genomes]
rs57657087	0.80[EUR][1000 genomes]
rs58398048	0.82[EUR][1000 genomes]
rs60213528	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61825130	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6672422	0.98[EUR][1000 genomes]
rs6672559	0.94[EUR][1000 genomes]
rs6672601	0.98[EUR][1000 genomes]
rs72472998	0.80[EUR][1000 genomes]
rs72756204	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72756209	0.82[AMR][1000 genomes]
rs73110722	0.89[EUR][1000 genomes]
rs7530812	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882451	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228195200-228213200	Weak transcription	Right Atrium	heart
2	chr1:228199800-228202400	Enhancers	Placenta	Placenta
3	chr1:228200000-228203200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:228200400-228201400	Enhancers	NHEK	skin
5	chr1:228200600-228203200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:228200600-228203800	Enhancers	HMEC	breast
7	chr1:228200800-228202600	Enhancers	Esophagus	oesophagus
8	chr1:228201000-228201400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:228201000-228201600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:228201000-228202600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:228201000-228203600	Enhancers	HSMM	muscle
12	chr1:228201200-228201400	Enhancers	Psoas Muscle	Psoas
13	chr1:228201200-228201600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:228201200-228202400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr1:228201200-228202400	Enhancers	HSMMtube	muscle

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