Variant report

Variant	rs72684877
Chromosome Location	chr8:86973807-86973808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86921867..86923721-chr8:86971954..86974396,2	K562	blood:
2	chr8:86374080..86377028-chr8:86973214..86976061,2	MCF-7	breast:
3	chr8:86963911..86966839-chr8:86973522..86976599,3	K562	blood:
4	chr8:86852733..86854770-chr8:86972857..86974930,2	K562	blood:
5	chr8:86967219..86969593-chr8:86971822..86974157,2	K562	blood:
6	chr8:86852107..86854370-chr8:86972859..86974722,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	Chromatin interaction
ENSG00000104267	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11985504	1.00[ASN][1000 genomes]
rs11985607	1.00[ASN][1000 genomes]
rs11987022	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991581	1.00[ASN][1000 genomes]
rs1426565	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426568	1.00[ASN][1000 genomes]
rs1426569	0.84[EUR][1000 genomes]
rs1863581	1.00[ASN][1000 genomes]
rs34800222	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381325	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57029033	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60144208	1.00[ASN][1000 genomes]
rs62512080	1.00[ASN][1000 genomes]
rs62512081	1.00[ASN][1000 genomes]
rs62512082	1.00[ASN][1000 genomes]
rs62512084	1.00[ASN][1000 genomes]
rs62512085	1.00[ASN][1000 genomes]
rs62512106	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512107	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512108	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512109	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512117	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512118	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512119	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512120	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512121	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62512122	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468685	1.00[ASN][1000 genomes]
rs6468687	1.00[ASN][1000 genomes]
rs6468720	1.00[ASN][1000 genomes]
rs6468758	1.00[ASN][1000 genomes]
rs6468824	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468869	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986040	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996652	1.00[ASN][1000 genomes]
rs6998535	1.00[ASN][1000 genomes]
rs6998623	1.00[ASN][1000 genomes]
rs6999182	1.00[ASN][1000 genomes]
rs7010788	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016015	1.00[ASN][1000 genomes]
rs716978	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684857	0.88[EUR][1000 genomes]
rs72684861	0.88[EUR][1000 genomes]
rs72684862	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684870	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684873	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464656	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814880	1.00[ASN][1000 genomes]
rs7820948	1.00[ASN][1000 genomes]
rs7824910	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7826153	1.00[ASN][1000 genomes]
rs7838415	0.90[ASN][1000 genomes]
rs7838425	0.90[ASN][1000 genomes]
rs962670	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv482395	chr8:86766289-86986303	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv891139	chr8:86827016-87001113	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	esv2753776	chr8:86918562-87020337	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86970600-86977800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86971000-86974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:86971200-86977600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:86971800-86974000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:86972000-86977200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:86972200-86974000	Weak transcription	Brain Angular Gyrus	brain
7	chr8:86972400-86974000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:86972400-86977000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:86972400-86978000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:86972800-86974000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:86973000-86974000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:86973000-86974000	Weak transcription	Gastric	stomach
13	chr8:86973000-86976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:86973000-86976400	Weak transcription	Fetal Brain Male	brain
15	chr8:86973600-86976000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:86973800-86974000	Flanking Active TSS	K562	blood
17	chr8:86973800-86974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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