Variant report

Variant	rs4964678
Chromosome Location	chr12:104620226-104620227
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104611588..104614072-chr12:104619313..104622128,3	K562	blood:
2	chr12:104611527..104621556-chr12:104677756..104684608,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10745993	0.81[AFR][1000 genomes]
rs10861169	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10861170	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10861171	0.85[AFR][1000 genomes]
rs10861176	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861179	0.92[ASN][1000 genomes]
rs11111916	0.85[ASN][1000 genomes]
rs11111917	0.86[ASN][1000 genomes]
rs11111940	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11613944	0.86[ASN][1000 genomes]
rs11829709	0.82[ASN][1000 genomes]
rs11836726	0.84[ASN][1000 genomes]
rs4246260	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4246261	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4246263	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4246265	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4321026	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371000	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4445711	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4522249	0.81[ASN][1000 genomes]
rs4592489	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4609668	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4964256	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4964626	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4964628	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5005907	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60903309	0.87[AFR][1000 genomes]
rs61939220	0.86[ASN][1000 genomes]
rs6539130	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297296	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297956	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7397748	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7957744	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7966970	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969538	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972172	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7975524	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9705582	0.81[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	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4964678	EID3	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104614000-104623400	Weak transcription	Right Atrium	heart
2	chr12:104615000-104625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104619600-104620600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:104620000-104621600	Enhancers	NHEK	skin
5	chr12:104620200-104620400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104620200-104620600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:104620200-104620600	Enhancers	HMEC	breast

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