Variant report

Variant	rs8059626
Chromosome Location	chr16:72697419-72697420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72695892..72698061-chr16:72698266..72701175,2	K562	blood:
2	chr16:72696867..72698788-chr16:72960178..72962208,2	MCF-7	breast:
3	chr16:72691145..72694013-chr16:72696469..72698836,2	MCF-7	breast:
4	chr16:72697417..72699588-chr16:73081408..73083430,2	MCF-7	breast:
5	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261008	Chromatin interaction
ENSG00000259768	Chromatin interaction
ENSG00000140836	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1006805	0.82[EUR][1000 genomes]
rs11641842	0.84[EUR][1000 genomes]
rs11860023	0.81[EUR][1000 genomes]
rs12445443	0.82[EUR][1000 genomes]
rs12596611	0.81[EUR][1000 genomes]
rs12599375	0.83[EUR][1000 genomes]
rs12708933	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13333122	0.82[EUR][1000 genomes]
rs13335806	0.81[EUR][1000 genomes]
rs1429072	0.83[EUR][1000 genomes]
rs1560278	0.85[EUR][1000 genomes]
rs16971112	0.84[EUR][1000 genomes]
rs16971114	0.88[EUR][1000 genomes]
rs17287903	0.80[EUR][1000 genomes]
rs17359949	0.80[EUR][1000 genomes]
rs17841357	0.82[EUR][1000 genomes]
rs2358801	0.81[EUR][1000 genomes]
rs2905697	0.83[EUR][1000 genomes]
rs2914774	0.83[EUR][1000 genomes]
rs2914779	0.81[EUR][1000 genomes]
rs2967234	0.82[EUR][1000 genomes]
rs35005335	0.88[EUR][1000 genomes]
rs4788473	0.85[EUR][1000 genomes]
rs4788646	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56404261	0.81[EUR][1000 genomes]
rs62051486	0.80[EUR][1000 genomes]
rs62051488	0.80[EUR][1000 genomes]
rs62051497	0.89[EUR][1000 genomes]
rs62051500	0.90[EUR][1000 genomes]
rs62052880	0.82[EUR][1000 genomes]
rs62054469	0.80[EUR][1000 genomes]
rs62054470	0.80[EUR][1000 genomes]
rs7188640	0.84[EUR][1000 genomes]
rs7189331	0.85[EUR][1000 genomes]
rs7194470	0.81[EUR][1000 genomes]
rs7198233	0.87[EUR][1000 genomes]
rs7198431	0.88[EUR][1000 genomes]
rs7205109	0.89[EUR][1000 genomes]
rs8044665	0.90[EUR][1000 genomes]
rs8046749	0.83[EUR][1000 genomes]
rs8048181	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048832	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049577	0.83[EUR][1000 genomes]
rs8050815	0.82[EUR][1000 genomes]
rs8064129	0.81[EUR][1000 genomes]
rs877641	0.81[EUR][1000 genomes]
rs9922217	0.81[EUR][1000 genomes]
rs9924296	0.81[EUR][1000 genomes]
rs9940600	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1059111	chr16:72647569-72751907	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv1822094	chr16:72694760-72787961	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv572958	chr16:72696112-72778617	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72692200-72697800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:72692600-72697600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr16:72693600-72697600	Weak transcription	Primary B cells from cord blood	blood
4	chr16:72693600-72697600	Weak transcription	Thymus	Thymus
5	chr16:72695600-72697600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:72696600-72697600	Enhancers	Dnd41	blood
7	chr16:72696600-72697800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:72697000-72697600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:72697000-72697600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr16:72697000-72697600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:72697000-72697600	Enhancers	HepG2	liver
12	chr16:72697000-72697800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:72697200-72697600	Enhancers	GM12878-XiMat	blood
14	chr16:72697400-72697600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:72697400-72697600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr16:72697400-72697600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:72697400-72697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:72697400-72697600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr16:72697400-72697600	Enhancers	K562	blood
20	chr16:72697400-72700200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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