Variant report

Variant	rs7607353
Chromosome Location	chr2:72577226-72577227
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	chr2:72576055..72577738-chr2:72579767..72581620,2	K562	blood:

Variant related genes	Relation type
ENSG00000144036	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10173152	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10175824	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10176044	1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10207869	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10496183	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10496185	1.00[GIH][hapmap]
rs11674508	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11680197	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11684981	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11689707	1.00[GIH][hapmap]
rs11695000	0.91[YRI][hapmap]
rs11884225	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11884869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11887356	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11890482	1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11891573	1.00[CEU][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11894521	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11897200	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs11902051	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11903453	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11903908	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11903912	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13409513	0.84[YRI][hapmap]
rs1517179	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17007984	0.86[MEX][hapmap]
rs17008057	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17008082	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17008143	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17008208	1.00[GIH][hapmap];0.82[YRI][hapmap]
rs17040320	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1914339	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4507127	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4508623	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs55714718	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55727931	0.91[EUR][1000 genomes]
rs55728837	0.91[EUR][1000 genomes]
rs55840408	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55939880	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56109129	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56173504	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56184446	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56718524	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57286048	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57730885	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58033567	0.88[EUR][1000 genomes]
rs58035683	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58582296	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59881252	0.91[EUR][1000 genomes]
rs59974816	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60536402	0.86[EUR][1000 genomes]
rs60806585	0.92[EUR][1000 genomes]
rs6546754	0.86[MEX][hapmap]
rs6546761	1.00[CEU][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6546762	0.85[AFR][1000 genomes]
rs6546763	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6546769	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546770	0.83[AMR][1000 genomes]
rs6546771	0.91[EUR][1000 genomes]
rs66539158	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66560019	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66827358	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66920016	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707920	1.00[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67085067	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6711442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6712930	0.91[EUR][1000 genomes]
rs6712989	0.91[EUR][1000 genomes]
rs67166018	0.91[EUR][1000 genomes]
rs6717250	1.00[CEU][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6717899	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs6718052	0.91[EUR][1000 genomes]
rs6723136	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6723380	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6727580	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6731631	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6731988	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6733532	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6733538	1.00[CEU][hapmap];0.81[YRI][hapmap];0.91[EUR][1000 genomes]
rs6735400	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738521	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6743881	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6746583	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746586	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6758324	0.85[CEU][hapmap];1.00[GIH][hapmap]
rs6758689	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs719119	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs719120	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72841783	0.84[EUR][1000 genomes]
rs72841795	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7420583	0.87[EUR][1000 genomes]
rs7424190	0.84[EUR][1000 genomes]
rs7557942	0.83[ASW][hapmap];1.00[GIH][hapmap];0.92[YRI][hapmap]
rs7559116	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7569059	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7571483	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571517	0.83[ASW][hapmap];1.00[GIH][hapmap];0.88[YRI][hapmap]
rs7575050	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs7577244	0.88[YRI][hapmap]
rs7583268	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7591608	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596126	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7599755	0.84[EUR][1000 genomes]
rs7600134	0.91[EUR][1000 genomes]
rs7603342	0.91[EUR][1000 genomes]
rs7603535	0.91[EUR][1000 genomes]
rs7604296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7608054	1.00[CEU][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs764766	1.00[GIH][hapmap]
rs9309465	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9677947	0.89[EUR][1000 genomes]
rs9677959	0.88[EUR][1000 genomes]
rs9678682	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7607353	EGR4	cis	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72531200-72594800	Weak transcription	Esophagus	oesophagus
2	chr2:72553800-72594600	Weak transcription	Aorta	Aorta
3	chr2:72559200-72607400	Weak transcription	Liver	Liver
4	chr2:72560600-72594800	Weak transcription	Pancreas	Pancrea
5	chr2:72569000-72577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:72569000-72577800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:72569600-72577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:72572200-72601400	Weak transcription	Adipose Nuclei	Adipose
9	chr2:72572200-72607200	Weak transcription	Psoas Muscle	Psoas
10	chr2:72573600-72578000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:72573600-72595000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:72574200-72594800	Weak transcription	Placenta	Placenta
13	chr2:72575200-72588800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:72576600-72577600	Weak transcription	HSMMtube	muscle
15	chr2:72576600-72577800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:72576600-72581600	Weak transcription	Fetal Heart	heart
17	chr2:72576600-72594800	Weak transcription	Right Ventricle	heart
18	chr2:72576600-72605200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:72576800-72577400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:72577200-72578800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links