Variant report

Variant	rs8116991
Chromosome Location	chr20:22754994-22754995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22749168..22751913-chr20:22752671..22755024,2	K562	blood:
2	chr20:22725796..22727979-chr20:22752772..22755655,2	K562	blood:
3	chr20:22751785..22755071-chr20:22774743..22777587,3	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10735149	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11697574	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11699126	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11699192	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11906177	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11906209	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11906222	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11906944	0.84[ASN][1000 genomes]
rs13042234	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13043348	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16984461	0.84[ASN][1000 genomes]
rs17681000	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17681083	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103766	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143903	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2143904	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2179857	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179858	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207169	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404492	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34023416	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35049078	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35465115	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4414746	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650525	0.84[ASN][1000 genomes]
rs6075949	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6075950	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6075951	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6075953	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6075954	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6075955	0.84[ASN][1000 genomes]
rs6075956	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6075962	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6075964	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6075965	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082813	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082815	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082816	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082817	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082818	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082819	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082822	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082825	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6082827	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082828	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082829	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082830	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082832	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6082833	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082836	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082837	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082838	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082839	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082840	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6082842	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7274509	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274843	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7353078	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73900571	0.87[ASN][1000 genomes]
rs8119685	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8122403	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8122474	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8123509	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926744	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528221	chr20:22732749-22767280	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv979482	chr20:22751722-22766987	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22746000-22756000	Weak transcription	Spleen	Spleen
2	chr20:22751400-22755400	Weak transcription	Hela-S3	cervix
3	chr20:22752400-22756200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:22752800-22755000	Weak transcription	HSMM	muscle
5	chr20:22752800-22755600	Weak transcription	HSMMtube	muscle
6	chr20:22753400-22756800	Weak transcription	Aorta	Aorta
7	chr20:22753600-22757600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:22754000-22755000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr20:22754000-22756000	Enhancers	NHEK	skin
10	chr20:22754000-22757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:22754000-22757800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:22754000-22757800	Enhancers	HMEC	breast
13	chr20:22754200-22756800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:22754400-22758000	Enhancers	Placenta	Placenta
15	chr20:22754600-22755600	Enhancers	A549	lung
16	chr20:22754600-22756000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:22754600-22756000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:22754600-22756200	Weak transcription	HUVEC	blood vessel
19	chr20:22754600-22757600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:22754800-22755600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:22754800-22757400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links