Variant report

Variant	rs60973921
Chromosome Location	chr8:105683258-105683259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105602054..105604181-chr8:105681847..105684513,2	K562	blood:
2	chr8:105600395..105604181-chr8:105683013..105688062,5	K562	blood:
3	chr8:105631159..105633495-chr8:105682582..105685901,3	K562	blood:
4	chr8:105631159..105633895-chr8:105682991..105685901,2	K562	blood:
5	chr8:105676080..105680701-chr8:105682694..105685593,5	K562	blood:

Variant related genes	Relation type
ENSG00000253350	Chromatin interaction
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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57345526	1.00[AMR][1000 genomes]
rs57576798	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818570	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58114675	1.00[AMR][1000 genomes]
rs59216364	1.00[AMR][1000 genomes]
rs59493567	1.00[AMR][1000 genomes]
rs60059403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60373042	1.00[AMR][1000 genomes]
rs61420349	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	1.00[AMR][1000 genomes]
rs73295165	1.00[AMR][1000 genomes]
rs73295177	1.00[AMR][1000 genomes]
rs73295179	1.00[AMR][1000 genomes]
rs73295180	1.00[AMR][1000 genomes]
rs73295190	1.00[AMR][1000 genomes]
rs73297119	1.00[AMR][1000 genomes]
rs73297125	1.00[AMR][1000 genomes]
rs73297141	1.00[AMR][1000 genomes]
rs73297156	1.00[AMR][1000 genomes]
rs73297196	1.00[AMR][1000 genomes]
rs73299147	1.00[AMR][1000 genomes]
rs73299148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302809	0.88[AFR][1000 genomes];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	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
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105678800-105685200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:105678800-105685200	Weak transcription	NH-A	brain
3	chr8:105679200-105684000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105679200-105685000	Enhancers	K562	blood
5	chr8:105679200-105690600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:105680400-105683400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:105680400-105683400	Enhancers	Osteobl	bone
8	chr8:105681800-105683400	Enhancers	Fetal Kidney	kidney
9	chr8:105681800-105689400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:105682000-105685000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:105682800-105689800	Weak transcription	NHDF-Ad	bronchial

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