Variant report

Variant	rs61280985
Chromosome Location	chr1:169546785-169546786
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	chr1:169454435..169456317-chr1:169545578..169547535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1018828	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10489184	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16862374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16862375	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16862377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16862380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17587779	0.92[EUR][1000 genomes]
rs3917836	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3917839	0.92[EUR][1000 genomes]
rs3917840	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3917851	0.92[EUR][1000 genomes]
rs3917853	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6023	0.92[EUR][1000 genomes]
rs6664922	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6703487	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6703865	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73037471	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7528914	0.95[EUR][1000 genomes]
rs9332476	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9332504	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9332517	0.95[EUR][1000 genomes]
rs9332562	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv872536	chr1:169538466-169547610	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv872537	chr1:169538603-169547610	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:169540200-169547200	Genic enhancers	HepG2	liver
3	chr1:169541600-169550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:169542000-169550400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:169542200-169554800	Weak transcription	Placenta	Placenta
6	chr1:169542800-169548000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:169543800-169554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:169544600-169547000	Weak transcription	Stomach Mucosa	stomach
9	chr1:169545400-169549800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:169545800-169548000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:169546200-169548400	Enhancers	Liver	Liver
12	chr1:169546600-169548600	Weak transcription	Right Ventricle	heart

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