Variant report

Variant	rs9987352
Chromosome Location	chr8:124187377-124187378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:
2	chr8:124186237..124188442-chr8:124251831..124254450,2	MCF-7	breast:
3	chr8:124185720..124188524-chr8:124283602..124285793,2	K562	blood:

Variant related genes	Relation type
ENSG00000189376	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10096350	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10505430	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11988157	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11992152	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13259806	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13260626	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13260775	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13260798	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261021	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261066	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13261100	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16898076	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898084	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16898086	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898088	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898095	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16898097	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17323510	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28513831	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28528232	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537152	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28542077	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28624331	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28670850	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694222	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4282551	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4377946	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57165742	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57322232	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57902736	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58116120	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58177772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58189203	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58741168	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59601467	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59834873	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60362869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60827294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61326230	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61422480	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521825	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62521826	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521841	0.87[EUR][1000 genomes]
rs6983795	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6988636	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6989108	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7002021	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7002332	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73339658	0.84[EUR][1000 genomes]
rs73339686	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9987357	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 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	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124181400-124188600	Enhancers	K562	blood
3	chr8:124184600-124188400	Enhancers	Hela-S3	cervix
4	chr8:124186000-124188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:124186400-124187400	Enhancers	HMEC	breast
6	chr8:124186400-124187400	Enhancers	NHEK	skin
7	chr8:124186800-124189600	Weak transcription	Esophagus	oesophagus
8	chr8:124186800-124194000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:124186800-124194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124187000-124193600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:124187200-124188000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:124187200-124190000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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