Variant report

Variant	rs7526450
Chromosome Location	chr1:241989599-241989600
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241988599..241991404-chr1:241995097..241997500,3	K562	blood:
2	chr1:241983775..241986188-chr1:241988893..241991233,2	K562	blood:
3	chr1:241988238..241990297-chr1:241995533..241997207,2	K562	blood:
4	chr1:241938951..241940593-chr1:241988406..241990312,2	K562	blood:
5	chr1:241795192..241798178-chr1:241987807..241989667,2	K562	blood:
6	chr1:241986331..241988478-chr1:241989134..241991324,3	K562	blood:

Variant related genes	Relation type
ENSG00000229022	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10047251	0.94[CEU][hapmap]
rs10489351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10926555	0.87[JPT][hapmap]
rs10926568	0.94[CEU][hapmap]
rs10926572	0.94[CEU][hapmap]
rs10926574	0.93[CEU][hapmap]
rs12021981	0.89[ASN][1000 genomes]
rs12030185	0.93[ASN][1000 genomes]
rs12033730	0.86[JPT][hapmap]
rs12037438	0.98[ASN][1000 genomes]
rs12047688	0.98[ASN][1000 genomes]
rs12074374	0.94[CEU][hapmap]
rs12075350	0.94[CEU][hapmap]
rs12091633	0.93[CEU][hapmap]
rs12092046	0.88[CEU][hapmap]
rs12095445	0.94[CEU][hapmap]
rs13375989	0.94[CEU][hapmap]
rs1342867	1.00[CEU][hapmap]
rs4658798	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs6429298	0.94[CEU][hapmap]
rs6429299	0.94[CEU][hapmap]
rs6429302	0.94[CEU][hapmap]
rs6429311	0.94[CEU][hapmap]
rs6660576	0.94[CEU][hapmap]
rs6660686	0.94[CEU][hapmap]
rs6663895	0.94[CEU][hapmap]
rs6667772	0.93[CEU][hapmap]
rs6670605	0.94[CEU][hapmap]
rs6680528	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685969	0.93[CEU][hapmap]
rs6694094	0.91[CEU][hapmap]
rs6698158	0.94[CEU][hapmap]
rs6698460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703922	0.92[CEU][hapmap]
rs7514880	0.94[CEU][hapmap]
rs7524386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533124	0.85[CEU][hapmap]
rs7539331	0.82[JPT][hapmap]
rs7552731	0.94[CEU][hapmap]
rs7554579	0.94[CEU][hapmap]
rs851777	1.00[CEU][hapmap]
rs9428522	0.93[CEU][hapmap]
rs9428526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9428897	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7526450	SDCCAG8	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241981200-241992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:241985000-241992000	Weak transcription	Osteobl	bone
3	chr1:241985600-241990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:241985600-241991800	Weak transcription	NHLF	lung
5	chr1:241985600-241992000	Weak transcription	NHDF-Ad	bronchial
6	chr1:241985800-241991800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:241987800-241992000	Weak transcription	K562	blood
8	chr1:241988800-241989600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:241989000-241989600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:241989000-241989800	Enhancers	Aorta	Aorta
11	chr1:241989000-241991800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:241989000-241992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:241989000-241992400	Enhancers	Fetal Brain Male	brain
14	chr1:241989200-241989600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:241989200-241991000	Weak transcription	Left Ventricle	heart
16	chr1:241989200-241992000	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links