Variant report

Variant	rs55933347
Chromosome Location	chr8:99865684-99865685
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	chr8:99836010..99840004-chr8:99859824..99865808,6	K562	blood:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10504986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504987	1.00[ASN][1000 genomes]
rs16897111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897122	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897123	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897128	1.00[ASN][1000 genomes]
rs17374005	1.00[ASN][1000 genomes]
rs34329419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4554439	1.00[ASN][1000 genomes]
rs4574821	1.00[ASN][1000 genomes]
rs55708865	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	1.00[ASN][1000 genomes]
rs55878650	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55892905	1.00[ASN][1000 genomes]
rs55899553	1.00[ASN][1000 genomes]
rs55939044	1.00[ASN][1000 genomes]
rs55947965	1.00[ASN][1000 genomes]
rs55999827	1.00[ASN][1000 genomes]
rs56088337	1.00[ASN][1000 genomes]
rs56099380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185259	1.00[ASN][1000 genomes]
rs56246659	1.00[ASN][1000 genomes]
rs56285208	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56356780	1.00[ASN][1000 genomes]
rs67954509	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994994	1.00[ASN][1000 genomes]
rs7010279	1.00[ASN][1000 genomes]
rs7012298	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012465	1.00[ASN][1000 genomes]
rs72666652	1.00[ASN][1000 genomes]
rs72666655	1.00[ASN][1000 genomes]
rs72666661	1.00[ASN][1000 genomes]
rs72666665	1.00[ASN][1000 genomes]
rs72666666	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[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666684	1.00[ASN][1000 genomes]
rs72666685	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666688	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666690	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72666699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72668403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668417	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668419	0.95[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	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668467	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668480	1.00[ASN][1000 genomes]
rs72668495	1.00[ASN][1000 genomes]
rs72670210	1.00[ASN][1000 genomes]
rs7817630	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820829	1.00[ASN][1000 genomes]
rs7835203	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	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99859800-99879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99864200-99874200	Weak transcription	Ovary	ovary
3	chr8:99865400-99866000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:99865600-99865800	ZNF genes & repeats	Left Ventricle	heart
5	chr8:99865600-99866200	Enhancers	GM12878-XiMat	blood
6	chr8:99865600-99866200	Flanking Active TSS	K562	blood

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