Variant report

Variant	rs9630625
Chromosome Location	chr16:72496681-72496682
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	chr16:72495627..72498619-chr16:72502820..72505765,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1006805	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492821	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10492822	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11860023	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12051542	0.87[ASN][1000 genomes]
rs12445443	0.81[EUR][1000 genomes]
rs12596611	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12599375	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708933	0.91[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs13333122	0.91[CEU][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs13335806	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1429072	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16970933	0.90[EUR][1000 genomes]
rs16971112	0.91[CEU][hapmap];0.95[YRI][hapmap]
rs17608394	0.85[AFR][1000 genomes]
rs17608557	0.91[CEU][hapmap]
rs17676709	0.85[AFR][1000 genomes]
rs17677146	0.90[EUR][1000 genomes]
rs17677484	0.85[AFR][1000 genomes]
rs17677616	0.91[CEU][hapmap];0.94[YRI][hapmap]
rs17841357	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864229	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2158268	0.80[ASN][1000 genomes]
rs2336437	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2905697	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2905699	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2914774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2914777	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2914779	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2967232	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2967233	0.95[ASN][1000 genomes]
rs2967234	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967240	0.82[AMR][1000 genomes]
rs55808336	0.85[AFR][1000 genomes]
rs56389222	0.85[AFR][1000 genomes]
rs56404261	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57755001	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61475520	0.83[AFR][1000 genomes]
rs62051130	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62051131	0.81[AFR][1000 genomes]
rs62051136	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62051137	0.87[EUR][1000 genomes]
rs62051145	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62051146	0.94[EUR][1000 genomes]
rs62051147	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62051148	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62051149	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62051150	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62051151	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62052871	0.93[EUR][1000 genomes]
rs62052880	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62052888	0.84[AFR][1000 genomes]
rs7193177	0.85[AFR][1000 genomes]
rs7194024	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7194470	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7194533	0.80[AMR][1000 genomes]
rs7195825	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7199954	0.91[EUR][1000 genomes]
rs7205109	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap]
rs72793244	0.93[EUR][1000 genomes]
rs8046749	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8048832	0.91[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap]
rs8049577	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8060607	0.80[ASN][1000 genomes]
rs8064129	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs806732	0.96[GIH][hapmap];0.95[YRI][hapmap]
rs806733	0.93[GIH][hapmap];0.85[LWK][hapmap];0.95[YRI][hapmap]
rs806745	0.81[ASN][1000 genomes]
rs877641	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9922217	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9924296	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9936195	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1057127	chr16:72375524-72509686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv542949	chr16:72375524-72509686	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1055807	chr16:72418417-72614308	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv572956	chr16:72426448-72517014	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv523524	chr16:72464460-72635674	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1055142	chr16:72473520-72627783	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv542950	chr16:72473520-72627783	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9630625	PRMT7	cis	cerebellum	SCAN
rs9630625	DHODH	cis	cerebellum	SCAN
rs9630625	THAP11	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72489600-72508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72492800-72498600	Weak transcription	Primary B cells from cord blood	blood
3	chr16:72494600-72516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links