Variant report

Variant	rs55708865
Chromosome Location	chr8:99911891-99911892
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99911825..99914444-chr8:99917554..99920273,2	MCF-7	breast:
2	chr8:99910044..99913955-chr8:99926484..99929413,3	K562	blood:
3	chr8:99910461..99913135-chr8:99913966..99916980,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254312	Chromatin interaction
ENSG00000253415	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10504986	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504987	1.00[ASN][1000 genomes]
rs16897111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897112	1.00[ASN][1000 genomes]
rs16897115	1.00[ASN][1000 genomes]
rs16897117	1.00[ASN][1000 genomes]
rs16897119	1.00[ASN][1000 genomes]
rs16897121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897128	1.00[ASN][1000 genomes]
rs17374005	1.00[ASN][1000 genomes]
rs55807423	1.00[ASN][1000 genomes]
rs55878650	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55892905	1.00[ASN][1000 genomes]
rs55899553	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933347	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55939044	1.00[ASN][1000 genomes]
rs55999827	1.00[ASN][1000 genomes]
rs56088337	1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56185259	1.00[ASN][1000 genomes]
rs56246659	1.00[ASN][1000 genomes]
rs56285208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	1.00[ASN][1000 genomes]
rs56356780	1.00[ASN][1000 genomes]
rs67954509	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994994	1.00[ASN][1000 genomes]
rs7010279	1.00[ASN][1000 genomes]
rs7012298	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012465	1.00[ASN][1000 genomes]
rs72666673	1.00[ASN][1000 genomes]
rs72666676	1.00[ASN][1000 genomes]
rs72666678	1.00[ASN][1000 genomes]
rs72666680	1.00[ASN][1000 genomes]
rs72666684	1.00[ASN][1000 genomes]
rs72666685	1.00[ASN][1000 genomes]
rs72666688	1.00[ASN][1000 genomes]
rs72666689	1.00[ASN][1000 genomes]
rs72666690	1.00[ASN][1000 genomes]
rs72666699	1.00[ASN][1000 genomes]
rs72668403	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668407	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668412	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668417	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668419	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668423	1.00[ASN][1000 genomes]
rs72668425	1.00[ASN][1000 genomes]
rs72668426	1.00[ASN][1000 genomes]
rs72668428	1.00[ASN][1000 genomes]
rs72668430	1.00[ASN][1000 genomes]
rs72668442	1.00[ASN][1000 genomes]
rs72668446	1.00[ASN][1000 genomes]
rs72668447	1.00[ASN][1000 genomes]
rs72668449	1.00[ASN][1000 genomes]
rs72668453	1.00[ASN][1000 genomes]
rs72668455	1.00[ASN][1000 genomes]
rs72668456	1.00[ASN][1000 genomes]
rs72668457	1.00[ASN][1000 genomes]
rs72668458	1.00[ASN][1000 genomes]
rs72668460	1.00[ASN][1000 genomes]
rs72668461	1.00[ASN][1000 genomes]
rs72668464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668480	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668495	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670210	1.00[ASN][1000 genomes]
rs7817630	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820829	1.00[ASN][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	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99897600-99913800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99904600-99913600	Weak transcription	HSMMtube	muscle
3	chr8:99904800-99914600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:99905000-99913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:99908800-99914000	Weak transcription	HSMM	muscle
6	chr8:99910200-99912000	Enhancers	Ovary	ovary
7	chr8:99910400-99912000	Enhancers	Psoas Muscle	Psoas
8	chr8:99910800-99913200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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