Variant report

Variant	rs72799261
Chromosome Location	chr5:152733130-152733131
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10036163	0.98[EUR][1000 genomes]
rs10037511	0.98[EUR][1000 genomes]
rs10045698	0.98[EUR][1000 genomes]
rs11738200	0.98[EUR][1000 genomes]
rs11739127	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741001	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742907	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742937	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11749295	0.98[EUR][1000 genomes]
rs13354091	0.98[EUR][1000 genomes]
rs17114459	0.98[EUR][1000 genomes]
rs17114463	0.98[EUR][1000 genomes]
rs17114466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17114473	0.98[EUR][1000 genomes]
rs72799217	0.82[ASN][1000 genomes]
rs72799219	0.82[ASN][1000 genomes]
rs72799249	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799253	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799254	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799264	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72799267	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1019051	chr5:152550863-153057896	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868912	chr5:152582002-153095306	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv883052	chr5:152696107-152749009	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv883053	chr5:152696107-152806220	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152730200-152734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:152730800-152733200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:152732000-152733400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:152732200-152733200	Flanking Active TSS	GM12878-XiMat	blood
5	chr5:152732400-152733200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:152732600-152733200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:152732800-152733200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:152732800-152733400	Enhancers	HMEC	breast
9	chr5:152732800-152734400	Enhancers	NHEK	skin
10	chr5:152732800-152735400	Weak transcription	Aorta	Aorta
11	chr5:152733000-152733200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:152733000-152733200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:152733000-152733400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:152733000-152733400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:152733000-152738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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