Variant report

Variant	rs73295190
Chromosome Location	chr8:105581928-105581929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105572145..105574529-chr8:105581183..105583326,2	K562	blood:
2	chr8:105579835..105582495-chr8:105601223..105602786,2	K562	blood:

Variant related genes	Relation type
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs3910537	1.00[AMR][1000 genomes]
rs57345526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57576798	1.00[AMR][1000 genomes]
rs57818570	1.00[AMR][1000 genomes]
rs58114675	1.00[AMR][1000 genomes]
rs59216364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59493567	1.00[AMR][1000 genomes]
rs60059403	1.00[AMR][1000 genomes]
rs60373042	1.00[AMR][1000 genomes]
rs60973921	1.00[AMR][1000 genomes]
rs61420349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61625565	1.00[AMR][1000 genomes]
rs73293273	1.00[AMR][1000 genomes]
rs73293281	1.00[AMR][1000 genomes]
rs73293282	1.00[AMR][1000 genomes]
rs73293285	1.00[AMR][1000 genomes]
rs73295106	1.00[AMR][1000 genomes]
rs73295123	1.00[AMR][1000 genomes]
rs73295125	1.00[AMR][1000 genomes]
rs73295147	1.00[AMR][1000 genomes]
rs73295152	1.00[AMR][1000 genomes]
rs73295161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297119	1.00[AMR][1000 genomes]
rs73297125	1.00[AMR][1000 genomes]
rs73297141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297156	1.00[AMR][1000 genomes]
rs73297196	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299147	1.00[AMR][1000 genomes]
rs73299148	1.00[AMR][1000 genomes]
rs73302809	1.00[AMR][1000 genomes]
rs73302822	1.00[AMR][1000 genomes]
rs73302823	1.00[AMR][1000 genomes]
rs73302825	1.00[AMR][1000 genomes]
rs73302826	1.00[AMR][1000 genomes]
rs971106	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105557400-105583800	Weak transcription	Thymus	Thymus
2	chr8:105566200-105587200	Weak transcription	Left Ventricle	heart
3	chr8:105566400-105583400	Weak transcription	Fetal Thymus	thymus
4	chr8:105579800-105587600	Weak transcription	Fetal Heart	heart
5	chr8:105580400-105583800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:105580400-105586200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:105580600-105583400	Weak transcription	Ovary	ovary
8	chr8:105580600-105585600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:105581200-105583200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:105581600-105584000	Weak transcription	NH-A	brain
11	chr8:105581600-105584800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr8:105581600-105590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:105581600-105593000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:105581600-105598600	Weak transcription	Osteobl	bone
15	chr8:105581800-105583400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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