Variant report

Variant	rs4326880
Chromosome Location	chr12:86149500-86149501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10506923	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10735486	0.80[EUR][1000 genomes]
rs10746353	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10779201	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10779206	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10779207	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10863071	0.90[EUR][1000 genomes]
rs10863077	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10863078	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10863079	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10863080	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11117016	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11117017	0.89[EUR][1000 genomes]
rs11117020	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11117021	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11117023	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12426417	0.80[EUR][1000 genomes]
rs2405613	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2405615	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2405621	0.90[EUR][1000 genomes]
rs34656916	0.80[EUR][1000 genomes]
rs34885805	0.80[EUR][1000 genomes]
rs4278581	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341613	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4412812	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4462416	0.90[EUR][1000 genomes]
rs4559760	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4897818	0.90[EUR][1000 genomes]
rs61930037	0.80[EUR][1000 genomes]
rs61930579	0.80[EUR][1000 genomes]
rs6539919	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7137041	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7307617	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7307626	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7314668	0.88[EUR][1000 genomes]
rs974816	0.88[EUR][1000 genomes]
rs974818	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv455680	chr12:86120810-86160277	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv559666	chr12:86120810-86160277	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86148600-86150400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86149400-86149800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:86149400-86150400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr12:86149400-86150400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:86149400-86150800	Enhancers	HMEC	breast
6	chr12:86149400-86150800	Enhancers	NHEK	skin

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