Variant report

Variant	rs8048832
Chromosome Location	chr16:72688650-72688651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72681728..72684547-chr16:72686851..72689068,2	MCF-7	breast:
2	chr16:72684598..72691322-chr16:72693103..72699384,8	K562	blood:

Variant related genes	Relation type
ENSG00000259768	Chromatin interaction
ENSG00000261008	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1001493	0.82[EUR][1000 genomes]
rs1006805	0.84[EUR][1000 genomes]
rs11641842	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11860023	0.83[EUR][1000 genomes]
rs12051542	0.82[EUR][1000 genomes]
rs12445443	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12596611	0.83[EUR][1000 genomes]
rs12599375	0.85[EUR][1000 genomes]
rs12708933	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13333122	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs13335806	0.83[EUR][1000 genomes]
rs1429072	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1560278	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16971035	0.80[EUR][1000 genomes]
rs16971036	0.80[EUR][1000 genomes]
rs16971050	0.80[EUR][1000 genomes]
rs16971112	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16971114	0.90[EUR][1000 genomes]
rs17287903	0.82[EUR][1000 genomes]
rs17359949	0.82[EUR][1000 genomes]
rs17609787	0.80[EUR][1000 genomes]
rs17609808	0.80[EUR][1000 genomes]
rs17677484	0.80[EUR][1000 genomes]
rs17677616	1.00[CEU][hapmap]
rs17677890	0.80[EUR][1000 genomes]
rs17841357	0.84[EUR][1000 genomes]
rs1864229	0.82[EUR][1000 genomes]
rs2358801	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2905697	0.85[EUR][1000 genomes]
rs2905699	0.81[EUR][1000 genomes]
rs2914774	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2914779	0.83[EUR][1000 genomes]
rs2967232	0.81[EUR][1000 genomes]
rs2967233	0.80[EUR][1000 genomes]
rs2967234	1.00[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs2967240	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35005335	0.90[EUR][1000 genomes]
rs4788473	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788646	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55766519	0.80[EUR][1000 genomes]
rs55808336	0.80[EUR][1000 genomes]
rs56323671	0.81[EUR][1000 genomes]
rs56348767	0.81[EUR][1000 genomes]
rs56404261	0.83[EUR][1000 genomes]
rs57220817	0.80[EUR][1000 genomes]
rs58549165	0.80[EUR][1000 genomes]
rs58745414	0.80[EUR][1000 genomes]
rs62051486	0.82[EUR][1000 genomes]
rs62051488	0.82[EUR][1000 genomes]
rs62051497	0.91[EUR][1000 genomes]
rs62051500	0.90[EUR][1000 genomes]
rs62052880	0.84[EUR][1000 genomes]
rs62052890	0.80[EUR][1000 genomes]
rs62052891	0.80[EUR][1000 genomes]
rs62052895	0.80[EUR][1000 genomes]
rs62052909	0.80[EUR][1000 genomes]
rs62052911	0.80[EUR][1000 genomes]
rs62052920	0.80[EUR][1000 genomes]
rs62052921	0.80[EUR][1000 genomes]
rs62054469	0.82[EUR][1000 genomes]
rs62054470	0.82[EUR][1000 genomes]
rs7188640	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7189331	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7193177	0.80[EUR][1000 genomes]
rs7194470	0.83[EUR][1000 genomes]
rs7198233	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7198431	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7205109	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72793263	0.81[EUR][1000 genomes]
rs72793266	0.80[EUR][1000 genomes]
rs72793271	0.80[EUR][1000 genomes]
rs8044665	0.92[EUR][1000 genomes]
rs8046749	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8048181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049577	0.85[EUR][1000 genomes]
rs8050815	0.84[EUR][1000 genomes]
rs8059626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8064129	0.83[EUR][1000 genomes]
rs877641	0.83[EUR][1000 genomes]
rs9922217	0.83[EUR][1000 genomes]
rs9924296	0.83[EUR][1000 genomes]
rs9925470	0.80[EUR][1000 genomes]
rs9940600	0.91[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	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8048832	DHODH	cis	cerebellum	SCAN
rs8048832	NRN1L	cis	cerebellum	SCAN
rs8048832	PRMT7	cis	cerebellum	SCAN
rs8048832	PSMB10	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links