Variant report

Variant	rs6993446
Chromosome Location	chr8:87077968-87077969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87076395..87078069-chr8:87079542..87081146,2	MCF-7	breast:
2	chr8:87065472..87068267-chr8:87076592..87078873,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10085963	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10108400	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109651	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439338	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879427	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879655	1.00[EUR][1000 genomes]
rs16880855	1.00[EUR][1000 genomes]
rs1905464	1.00[EUR][1000 genomes]
rs55812306	1.00[EUR][1000 genomes]
rs56853460	1.00[EUR][1000 genomes]
rs56917565	1.00[EUR][1000 genomes]
rs57013511	1.00[EUR][1000 genomes]
rs57498184	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57940641	1.00[EUR][1000 genomes]
rs59971651	1.00[EUR][1000 genomes]
rs6987947	1.00[EUR][1000 genomes]
rs7000789	1.00[EUR][1000 genomes]
rs7008500	1.00[EUR][1000 genomes]
rs73255276	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73688578	1.00[EUR][1000 genomes]
rs73688582	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7813620	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818208	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7819780	1.00[EUR][1000 genomes]
rs7829242	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842123	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844072	1.00[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	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87074600-87078000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:87075000-87078000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:87075200-87078000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:87075200-87078200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:87075600-87078200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:87075600-87078200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:87076000-87078200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:87076200-87078600	Weak transcription	Fetal Lung	lung
9	chr8:87076200-87079400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr8:87076800-87080400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:87076800-87087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:87077200-87078000	Enhancers	Brain Germinal Matrix	brain
13	chr8:87077400-87078000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:87077800-87078000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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