Variant report

Variant	rs60020246
Chromosome Location	chr22:30106379-30106380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30103672..30106590-chr22:30107402..30109092,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11090582	1.00[EUR][1000 genomes]
rs16988011	1.00[EUR][1000 genomes]
rs16988043	1.00[EUR][1000 genomes]
rs16988044	1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs56783715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57014206	1.00[ASN][1000 genomes]
rs58113244	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs58808486	0.91[ASN][1000 genomes]
rs59172206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59237579	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59422664	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs59698661	0.91[ASN][1000 genomes]
rs59902813	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6006260	0.91[ASN][1000 genomes]
rs60670183	0.91[ASN][1000 genomes]
rs60751623	0.90[ASN][1000 genomes]
rs60965931	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61399074	0.91[ASN][1000 genomes]
rs61432554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740613	0.90[ASN][1000 genomes]
rs7285384	0.91[ASN][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7288777	0.91[ASN][1000 genomes]
rs7290848	1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs8136249	0.90[ASN][1000 genomes]
rs8139885	0.90[ASN][1000 genomes]
rs9614068	1.00[AFR][1000 genomes]
rs9625869	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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr22:30097000-30106400	Weak transcription	Psoas Muscle	Psoas
3	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
4	chr22:30103200-30106400	Weak transcription	Fetal Brain Female	brain
5	chr22:30103600-30106400	Weak transcription	Fetal Brain Male	brain
6	chr22:30104600-30108000	Enhancers	Fetal Muscle Leg	muscle
7	chr22:30105800-30108400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30106000-30106600	Enhancers	Hela-S3	cervix
9	chr22:30106000-30107000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr22:30106000-30107400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30106000-30107800	Enhancers	Spleen	Spleen
12	chr22:30106200-30106800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr22:30106200-30107600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:30106200-30107800	Enhancers	HSMMtube	muscle

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