Variant report

Variant	rs72668428
Chromosome Location	chr8:99896414-99896415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr8:99896172-99896469	HepG2	liver:	n/a	chr8:99896315-99896328 chr8:99896198-99896210 chr8:99896319-99896328
2	JUND	chr8:99896142-99896496	HepG2	liver:	n/a	chr8:99896198-99896210 chr8:99896319-99896328

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99896042..99898462-chr8:99956313..99958983,2	MCF-7	breast:

Variant related genes	Relation type
STK3	TF binding region
ENSG00000164920	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10504986	1.00[ASN][1000 genomes]
rs10504987	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897111	1.00[ASN][1000 genomes]
rs16897112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897119	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897121	1.00[ASN][1000 genomes]
rs16897122	1.00[ASN][1000 genomes]
rs16897123	1.00[ASN][1000 genomes]
rs16897128	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17374005	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708865	1.00[ASN][1000 genomes]
rs55807423	1.00[ASN][1000 genomes]
rs55878650	1.00[ASN][1000 genomes]
rs55892905	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55899553	1.00[ASN][1000 genomes]
rs55933347	1.00[ASN][1000 genomes]
rs55939044	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947965	1.00[ASN][1000 genomes]
rs55999827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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[ASN][1000 genomes]
rs56290864	1.00[ASN][1000 genomes]
rs56356780	1.00[ASN][1000 genomes]
rs67954509	1.00[ASN][1000 genomes]
rs6994994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010279	1.00[ASN][1000 genomes]
rs7012298	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7012465	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];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[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	1.00[ASN][1000 genomes]
rs72668407	1.00[ASN][1000 genomes]
rs72668412	1.00[ASN][1000 genomes]
rs72668417	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72668419	1.00[ASN][1000 genomes]
rs72668423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668442	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668446	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668447	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668449	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668453	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668455	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668456	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668457	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668458	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668460	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668461	1.00[ASN][1000 genomes]
rs72668464	1.00[ASN][1000 genomes]
rs72668467	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[ASN][1000 genomes]
rs7820829	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835203	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99889000-99898000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:99889600-99900000	Weak transcription	Ovary	ovary
3	chr8:99894800-99896600	Enhancers	HMEC	breast
4	chr8:99894800-99897400	Enhancers	NHEK	skin
5	chr8:99894800-99897600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:99895000-99896600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:99895400-99896800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:99895600-99897600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99896000-99900000	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:99896000-99901200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:99896200-99900000	Weak transcription	Fetal Stomach	stomach
12	chr8:99896200-99901000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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