Variant report

Variant	rs61742975
Chromosome Location	chr8:10555189-10555190
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	chr8:10553523..10556097-chr8:10561265..10564003,2	K562	blood:
2	chr8:10553813..10555777-chr8:10556607..10558383,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10093550	1.00[EUR][1000 genomes]
rs10098956	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28625845	1.00[EUR][1000 genomes]
rs4349948	1.00[EUR][1000 genomes]
rs4452762	1.00[EUR][1000 genomes]
rs56020877	1.00[EUR][1000 genomes]
rs57580421	1.00[EUR][1000 genomes]
rs58046990	1.00[EUR][1000 genomes]
rs58060783	1.00[EUR][1000 genomes]
rs58667747	1.00[EUR][1000 genomes]
rs59019446	1.00[EUR][1000 genomes]
rs59205544	1.00[EUR][1000 genomes]
rs59276210	0.85[ASN][1000 genomes]
rs59338305	1.00[EUR][1000 genomes]
rs59383863	1.00[EUR][1000 genomes]
rs59891547	1.00[EUR][1000 genomes]
rs59974525	1.00[EUR][1000 genomes]
rs60441085	1.00[EUR][1000 genomes]
rs60672851	0.85[ASN][1000 genomes]
rs61056554	1.00[EUR][1000 genomes]
rs61073299	1.00[EUR][1000 genomes]
rs61213977	1.00[EUR][1000 genomes]
rs6601505	0.85[ASN][1000 genomes]
rs6601507	0.85[ASN][1000 genomes]
rs6601508	0.85[ASN][1000 genomes]
rs6992420	1.00[EUR][1000 genomes]
rs6999508	1.00[EUR][1000 genomes]
rs7006325	1.00[AMR][1000 genomes]
rs7016693	1.00[EUR][1000 genomes]
rs7018069	1.00[EUR][1000 genomes]
rs73530796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532619	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73532620	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73532622	0.85[ASN][1000 genomes]
rs73537536	1.00[EUR][1000 genomes]
rs73539548	1.00[EUR][1000 genomes]
rs73539556	1.00[EUR][1000 genomes]
rs73662604	1.00[EUR][1000 genomes]
rs73662606	1.00[EUR][1000 genomes]
rs73662874	1.00[EUR][1000 genomes]
rs7827948	1.00[EUR][1000 genomes]
rs7831579	1.00[EUR][1000 genomes]
rs7844380	1.00[EUR][1000 genomes]
rs7845069	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv515898	chr8:10530037-10557407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv465463	chr8:10535826-10567630	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv610272	chr8:10535826-10567630	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv465464	chr8:10537940-10565263	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv610273	chr8:10537940-10565263	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10549800-10555400	Weak transcription	HMEC	breast
2	chr8:10550000-10555400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:10551600-10555400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:10551600-10555400	Weak transcription	Esophagus	oesophagus
5	chr8:10551800-10555400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:10554800-10556000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10555000-10555200	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr8:10555000-10557800	Enhancers	Spleen	Spleen

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