Variant report

Variant	rs11587994
Chromosome Location	chr1:228860072-228860073
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228860050..228863898-chr1:228864456..228870040,6	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1062060	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11578216	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11580020	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11583565	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17352654	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3738073	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41270187	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41270189	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41271473	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4391638	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4641285	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4993975	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55730631	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55956922	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56221905	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61825705	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6665334	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6701241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72751929	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2762224	chr1:228791784-228867656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228857800-228861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:228858200-228863400	Weak transcription	Pancreas	Pancrea
3	chr1:228858400-228863600	Weak transcription	Placenta	Placenta
4	chr1:228859800-228861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:228859800-228861200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:228859800-228870400	Weak transcription	Stomach Mucosa	stomach

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