Variant report

Variant	rs16829680
Chromosome Location	chr2:152022064-152022065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152020947..152023552-chr2:152026485..152029371,2	K562	blood:
2	chr2:152015868..152018283-chr2:152021661..152023265,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10490524	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1073614	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12990096	1.00[AFR][1000 genomes]
rs12997492	1.00[AFR][1000 genomes]
rs13009048	1.00[AFR][1000 genomes]
rs13010851	1.00[AFR][1000 genomes]
rs13013474	1.00[AFR][1000 genomes]
rs13014189	1.00[AFR][1000 genomes]
rs13026983	1.00[AFR][1000 genomes]
rs13035255	1.00[AFR][1000 genomes]
rs16823204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829612	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829613	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829615	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829662	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829668	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16829715	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16829723	0.84[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16829752	1.00[AFR][1000 genomes]
rs289929	0.94[ASN][1000 genomes]
rs34221803	1.00[AFR][1000 genomes]
rs34238735	1.00[AFR][1000 genomes]
rs34557584	1.00[AFR][1000 genomes]
rs34573599	1.00[AFR][1000 genomes]
rs34677748	1.00[AFR][1000 genomes]
rs34873254	1.00[AFR][1000 genomes]
rs35052859	1.00[AFR][1000 genomes]
rs35110064	1.00[AFR][1000 genomes]
rs35451836	1.00[AFR][1000 genomes]
rs35555169	1.00[AFR][1000 genomes]
rs35691151	1.00[AFR][1000 genomes]
rs35758708	1.00[AFR][1000 genomes]
rs35868647	1.00[AFR][1000 genomes]
rs36104725	1.00[AFR][1000 genomes]
rs61637122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71208329	1.00[AFR][1000 genomes]
rs71415117	1.00[AFR][1000 genomes]
rs71415118	1.00[AFR][1000 genomes]
rs71415119	1.00[AFR][1000 genomes]
rs71415121	1.00[AFR][1000 genomes]
rs71415122	1.00[AFR][1000 genomes]
rs72621643	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152018800-152022200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:152019600-152024000	Enhancers	Brain Germinal Matrix	brain
3	chr2:152020800-152022800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:152021000-152022400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:152021400-152022200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:152021600-152022400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:152021600-152022400	Weak transcription	Fetal Brain Female	brain

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