Variant report

Variant	rs726824
Chromosome Location	chr5:60332816-60332817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60330521..60333236-chr5:60333963..60336641,2	K562	blood:
2	chr5:60320010..60322208-chr5:60331308..60333222,2	MCF-7	breast:
3	chr5:60324520..60326950-chr5:60332622..60334608,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1021005	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10805374	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939879	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939881	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11739952	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11740632	0.96[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12516995	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12517310	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12518404	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12518792	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12652830	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12652878	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12653132	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12654306	0.92[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655209	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12655603	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1382917	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1460961	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1471488	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1479645	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1526896	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159535	0.86[EUR][1000 genomes]
rs159536	0.85[EUR][1000 genomes]
rs159537	0.96[YRI][hapmap]
rs17332824	0.96[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17392014	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17419290	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17444495	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1983484	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2049579	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2120956	0.86[EUR][1000 genomes]
rs2120957	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28436304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898309	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34608	0.86[EUR][1000 genomes]
rs34609	0.94[LWK][hapmap];0.82[MEX][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap]
rs34616	0.85[LWK][hapmap]
rs34617	0.96[YRI][hapmap]
rs34619	0.92[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs34625	0.87[YRI][hapmap]
rs34741733	0.85[ASN][1000 genomes]
rs3797559	0.96[CEU][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4642318	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4647052	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647132	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4647137	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4647150	0.96[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4700397	0.89[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.85[ASN][1000 genomes]
rs4700399	0.83[ASN][1000 genomes]
rs4700402	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4700404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700407	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55738840	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55814394	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56025209	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56031340	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56284222	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56350217	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58078456	0.80[ASN][1000 genomes]
rs58646987	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60858663	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61017995	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61101592	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62365455	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62365458	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62367862	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62367872	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367878	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62367879	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62367885	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62367903	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62372103	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62372133	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62372134	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6449512	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67490467	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67555188	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67858932	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68104763	0.89[EUR][1000 genomes]
rs6884966	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72757187	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72759206	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759215	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7445953	0.81[CHB][hapmap]
rs7701398	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7709522	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713481	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7714396	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7722373	0.92[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs7723349	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7723901	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7734205	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7737276	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs868791	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888799	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9687099	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs976630	0.96[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs976631	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs726824	KIF2A	cis	parietal	SCAN
rs726824	ERCC8	Cis_1M	lymphoblastoid	RTeQTL
rs726824	mimitin	cis	multi-tissue	Pritchard
rs726824	ELOVL7	cis	parietal	SCAN
rs726824	ERCC8	cis	multi-tissue	Pritchard
rs726824	DEPDC1B	cis	cerebellum	SCAN
rs726824	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL
rs726824	ERCC8	cis	lymphoblastoid	seeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
4	chr5:60326200-60334200	Weak transcription	Fetal Brain Male	brain
5	chr5:60326200-60339400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60331200-60333600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:60331400-60334000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:60332400-60333000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links