Variant report

Variant	rs2808672
Chromosome Location	chr9:100467594-100467595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100462976..100466831-chr9:100467484..100471759,4	K562	blood:
2	chr9:100466290..100468242-chr9:100471348..100474178,4	K562	blood:
3	chr9:100466474..100468807-chr9:100682892..100684747,2	MCF-7	breast:
4	chr9:100456256..100459810-chr9:100463870..100468057,7	MCF-7	breast:
5	chr9:100465031..100468402-chr9:100745252..100748120,3	MCF-7	breast:
6	chr9:100458037..100462084-chr9:100463856..100467658,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214417	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10817988	0.80[ASN][1000 genomes]
rs10983513	0.80[ASN][1000 genomes]
rs11792527	0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12375515	0.80[ASN][1000 genomes]
rs1355599	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2805827	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808679	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808680	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808692	0.91[ASN][1000 genomes]
rs3994138	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs953199	0.86[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2808672	ZNF484	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100460400-100467800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr9:100461400-100467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr9:100462400-100472800	Weak transcription	Brain Substantia Nigra	brain
4	chr9:100465400-100469000	Enhancers	HMEC	breast
5	chr9:100465600-100468600	Enhancers	HUVEC	blood vessel
6	chr9:100465600-100468800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:100465600-100468800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:100466000-100467800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:100466400-100468000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:100466400-100468400	Enhancers	Osteobl	bone
11	chr9:100466600-100467600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:100466600-100468000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:100466600-100468000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:100466600-100468000	Enhancers	HepG2	liver
15	chr9:100466600-100468600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:100466800-100467600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:100466800-100468000	Enhancers	Hela-S3	cervix
18	chr9:100466800-100468800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:100466800-100472800	Weak transcription	K562	blood
20	chr9:100467000-100468000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:100467000-100468000	Enhancers	NH-A	brain
22	chr9:100467000-100468600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr9:100467000-100468600	Enhancers	NHEK	skin
24	chr9:100467000-100468800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr9:100467200-100467800	Weak transcription	Esophagus	oesophagus
26	chr9:100467200-100468400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:100467200-100468400	Weak transcription	A549	lung
28	chr9:100467200-100472800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:100467200-100476400	Weak transcription	Fetal Intestine Large	intestine
30	chr9:100467400-100468000	Enhancers	GM12878-XiMat	blood

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