Variant report

Variant	rs10992472
Chromosome Location	chr9:95561287-95561288
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	chr9:95525963..95527643-chr9:95559825..95562774,2	K562	blood:

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1010823	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10117377	0.86[ASN][1000 genomes]
rs10821000	0.86[EUR][1000 genomes]
rs10821002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10821007	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821009	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821010	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821012	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821015	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821016	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10821017	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992402	0.85[EUR][1000 genomes]
rs10992403	0.86[EUR][1000 genomes]
rs10992413	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992419	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10992427	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992430	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992431	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992432	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992434	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992436	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992438	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992441	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992442	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992443	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992444	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992445	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10992451	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10992456	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10992462	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10992469	0.89[ASN][1000 genomes]
rs1125063	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1125064	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12236393	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12236516	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12236747	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12683839	0.87[EUR][1000 genomes]
rs12683944	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12685256	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12685257	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12685780	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12685791	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12686058	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1555574	0.89[ASN][1000 genomes]
rs1810696	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146719	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2181521	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2181586	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2277164	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2296080	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3203916	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4545157	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs556	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56111209	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56203846	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56339669	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57421019	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57720404	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60173654	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60457563	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66493272	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68022962	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68046436	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7037961	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs753802	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs753803	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7863890	0.80[EUR][1000 genomes]
rs7868651	0.89[ASN][1000 genomes]
rs7869529	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7871537	0.89[ASN][1000 genomes]
rs7875225	0.86[ASN][1000 genomes]
rs7875227	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8181065	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs878610	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs879812	0.80[EUR][1000 genomes]
rs912259	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs976320	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs976321	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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
3	nsv982595	chr9:95551536-95561640	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10992472	BICD2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95558600-95569600	Weak transcription	Right Atrium	heart
2	chr9:95559000-95563000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:95560600-95564400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:95560800-95561600	Enhancers	Esophagus	oesophagus
5	chr9:95560800-95563400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:95560800-95563600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:95561000-95561800	Weak transcription	NHEK	skin
8	chr9:95561200-95562400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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