Variant report

Variant	rs56031313
Chromosome Location	chr1:185665818-185665819
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	chr1:185664996..185667091-chr1:185697681..185699984,2	MCF-7	breast:
2	chr1:185284801..185287480-chr1:185665158..185667206,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11579889	0.83[EUR][1000 genomes]
rs11583092	0.83[EUR][1000 genomes]
rs11584252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11589543	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484134	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484135	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1552281	0.84[EUR][1000 genomes]
rs16824390	0.85[EUR][1000 genomes]
rs16824396	0.84[EUR][1000 genomes]
rs17445778	0.83[EUR][1000 genomes]
rs2004324	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34923020	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41519044	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55993167	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56238699	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57146145	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58708412	0.94[EUR][1000 genomes]
rs59197925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59253277	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59702468	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60074235	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60376365	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61829644	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61831462	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831470	0.85[EUR][1000 genomes]
rs61831480	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61831482	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831483	0.83[EUR][1000 genomes]
rs61831485	0.81[EUR][1000 genomes]
rs61831486	0.83[EUR][1000 genomes]
rs61831502	0.83[EUR][1000 genomes]
rs61831503	0.83[EUR][1000 genomes]
rs61831504	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831505	0.83[EUR][1000 genomes]
rs61831519	0.87[EUR][1000 genomes]
rs61831521	0.80[EUR][1000 genomes]
rs6656530	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727759	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538168	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554903	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs900775	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9286857	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs936723	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs992760	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs994970	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185663600-185668800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:185663600-185669000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:185663800-185667200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:185663800-185668600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:185663800-185668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:185664400-185667800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:185664400-185673200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:185665400-185666200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:185665600-185666000	Enhancers	Hela-S3	cervix
10	chr1:185665600-185666200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:185665800-185670200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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