Variant report

Variant	rs9846223
Chromosome Location	chr3:138062474-138062475
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	chr3:138061492..138063672-chr3:138066215..138068384,2	K562	blood:
2	chr3:138061037..138063195-chr3:138073891..138076466,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158186	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1002766	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11710280	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11713141	0.88[EUR][1000 genomes]
rs1199331	0.83[EUR][1000 genomes]
rs1199338	0.81[ASN][1000 genomes]
rs12107581	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12490350	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13324341	0.82[ASN][1000 genomes]
rs1564407	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564408	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1679147	0.88[EUR][1000 genomes]
rs1904349	0.84[ASN][1000 genomes]
rs2054468	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061936	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2169973	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2293252	0.80[EUR][1000 genomes]
rs35219044	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773752	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773758	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773759	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3816730	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4678260	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4678261	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4678407	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4678408	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4678409	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4678410	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4678411	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4678412	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4678415	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4678417	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6439804	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439805	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439806	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6439807	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67559768	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6766859	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6769236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769261	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782181	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6782449	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784989	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789235	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6790398	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6802211	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs730158	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs731632	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751357	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7615658	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626388	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7626424	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7637666	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7639809	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7639850	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7642400	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9289559	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs940233	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9825697	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9834911	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9845672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854465	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9855722	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138057400-138066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138058000-138063000	Weak transcription	Pancreas	Pancrea
3	chr3:138058200-138066200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:138061200-138066200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:138061600-138063200	Enhancers	Fetal Muscle Leg	muscle
6	chr3:138062400-138062800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:138062400-138063200	Enhancers	Adipose Nuclei	Adipose
8	chr3:138062400-138063800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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