Variant report

Variant	rs55778008
Chromosome Location	chr1:153694472-153694473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153693513..153696760-chr1:153696846..153701743,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199565	Chromatin interaction
ENSG00000143624	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11264299	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1132619	0.90[EUR][1000 genomes]
rs12062022	0.94[EUR][1000 genomes]
rs12068901	0.94[EUR][1000 genomes]
rs12070179	0.94[EUR][1000 genomes]
rs12070559	0.89[EUR][1000 genomes]
rs12071801	0.89[EUR][1000 genomes]
rs12076697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097043	0.94[EUR][1000 genomes]
rs12097583	0.94[EUR][1000 genomes]
rs28730729	1.00[ASN][1000 genomes]
rs28730731	1.00[ASN][1000 genomes]
rs35240348	1.00[ASN][1000 genomes]
rs36064263	0.90[EUR][1000 genomes]
rs3891075	1.00[ASN][1000 genomes]
rs4073768	0.94[EUR][1000 genomes]
rs41265168	1.00[ASN][1000 genomes]
rs41265191	0.94[EUR][1000 genomes]
rs4845359	1.00[ASN][1000 genomes]
rs55658698	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167936	0.90[EUR][1000 genomes]
rs56910871	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57314764	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57482283	1.00[ASN][1000 genomes]
rs60100741	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60316596	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60827720	0.94[EUR][1000 genomes]
rs61803563	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803566	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803567	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803571	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61803573	0.94[EUR][1000 genomes]
rs61805738	1.00[ASN][1000 genomes]
rs61806710	1.00[ASN][1000 genomes]
rs61806714	1.00[ASN][1000 genomes]
rs61806719	1.00[ASN][1000 genomes]
rs6427085	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660232	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663011	0.89[EUR][1000 genomes]
rs6663988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668229	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672371	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682411	0.90[EUR][1000 genomes]
rs6687602	0.94[EUR][1000 genomes]
rs6689176	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115713	0.94[EUR][1000 genomes]
rs7512561	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515716	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520045	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520235	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533987	1.00[ASN][1000 genomes]
rs7556155	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556379	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556575	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8532	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	nsv464028	chr1:153622220-153723037	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv547929	chr1:153622220-153723037	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
13	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
14	nsv1001312	chr1:153622834-153724867	Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv535176	chr1:153622834-153724867	Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv16517	chr1:153671644-153695309	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
18	nsv1002328	chr1:153672031-153718746	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv547939	chr1:153690013-153696665	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 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	chr1:153687400-153699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:153690400-153699000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153694200-153698000	Weak transcription	HepG2	liver

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