Variant report

Variant	rs1547788
Chromosome Location	chr1:223532570-223532571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223530700..223533144-chr1:223535218..223537707,3	MCF-7	breast:
2	chr1:223531318..223534020-chr1:223565340..223568095,2	MCF-7	breast:
3	chr1:223316125..223316646-chr1:223531902..223532782,2	MCF-7	breast:
4	chr1:223528933..223533041-chr1:223533611..223537910,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187554	Chromatin interaction
ENSG00000143502	Chromatin interaction
ENSG00000178395	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10495206	0.81[EUR][1000 genomes]
rs10495207	0.90[EUR][1000 genomes]
rs10907376	0.84[EUR][1000 genomes]
rs11261264	0.87[EUR][1000 genomes]
rs12123148	0.85[EUR][1000 genomes]
rs12140453	0.86[EUR][1000 genomes]
rs12564615	0.84[EUR][1000 genomes]
rs1619227	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1713219	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1713220	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17162008	0.90[EUR][1000 genomes]
rs17163824	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17163825	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17163827	0.82[EUR][1000 genomes]
rs17163828	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17163831	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480087	0.81[EUR][1000 genomes]
rs17480344	0.81[EUR][1000 genomes]
rs17539269	0.81[EUR][1000 genomes]
rs17539583	0.82[EUR][1000 genomes]
rs17578168	0.82[EUR][1000 genomes]
rs17578203	0.86[EUR][1000 genomes]
rs1772280	0.85[EUR][1000 genomes]
rs2459849	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487521	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2678377	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34150324	0.86[EUR][1000 genomes]
rs35318812	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61838210	0.81[EUR][1000 genomes]
rs61838229	0.81[EUR][1000 genomes]
rs61838230	0.82[EUR][1000 genomes]
rs61838231	0.82[EUR][1000 genomes]
rs61838234	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61838235	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61838236	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61838237	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61838238	0.82[EUR][1000 genomes]
rs61838239	0.82[EUR][1000 genomes]
rs61838240	0.82[EUR][1000 genomes]
rs61838241	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61838243	0.82[EUR][1000 genomes]
rs61838246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61838249	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61838250	0.84[EUR][1000 genomes]
rs61838252	0.83[EUR][1000 genomes]
rs61839867	0.86[EUR][1000 genomes]
rs6604709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536652	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7541162	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7555607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs870486	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9442046	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1547788	SUSD4	cis	Heart Left Ventricle	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223514400-223535800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:223526600-223534000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223528000-223535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:223528000-223536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:223530600-223533600	Weak transcription	Esophagus	oesophagus
6	chr1:223531200-223536400	Weak transcription	Psoas Muscle	Psoas
7	chr1:223532000-223532600	Enhancers	NHEK	skin

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