Variant report

Variant	rs7520614
Chromosome Location	chr1:62755482-62755483
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	chr1:62750494..62753386-chr1:62754498..62756263,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10493320	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11207957	1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs12058486	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs12063531	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][1000 genomes]
rs12065844	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12078087	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs12079207	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs12082238	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12085325	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12718429	0.94[ASN][1000 genomes]
rs12724349	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12760226	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12760895	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][1000 genomes]
rs2296518	0.94[ASN][1000 genomes]
rs2477872	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666487	1.00[ASN][1000 genomes]
rs2666488	1.00[ASN][1000 genomes]
rs2666507	0.80[CEU][hapmap]
rs2666508	0.81[CEU][hapmap]
rs2765258	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2765261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765263	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34752481	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs765692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs912894	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs912895	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs912896	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7520614	L1TD1	cis	parietal	SCAN
rs7520614	DAB1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62751600-62756200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62752600-62755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:62753000-62756400	Enhancers	HepG2	liver
4	chr1:62753200-62760000	Weak transcription	Fetal Stomach	stomach
5	chr1:62753200-62761600	Weak transcription	Pancreas	Pancrea
6	chr1:62753200-62761600	Weak transcription	Right Atrium	heart
7	chr1:62754200-62760200	Weak transcription	Placenta	Placenta
8	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:62754800-62765200	Weak transcription	Fetal Heart	heart
10	chr1:62755000-62759800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:62755200-62759800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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