Variant report

Variant	rs12403995
Chromosome Location	chr1:221921377-221921378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221908849..221910394-chr1:221921201..221922958,2	K562	blood:
2	chr1:221915773..221917564-chr1:221920253..221922492,3	MCF-7	breast:
3	chr1:221919412..221921894-chr1:221932218..221934661,2	K562	blood:
4	chr1:221915404..221918764-chr1:221918770..221924277,11	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10218652	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10779456	0.84[EUR][1000 genomes]
rs10863652	0.96[ASN][1000 genomes]
rs10863653	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10863654	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10863655	0.87[EUR][1000 genomes]
rs10863656	0.87[EUR][1000 genomes]
rs11118844	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11118846	0.91[ASN][1000 genomes]
rs11118847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118848	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11118854	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11118857	0.87[EUR][1000 genomes]
rs11118859	0.87[EUR][1000 genomes]
rs11118860	0.87[EUR][1000 genomes]
rs12070192	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12136350	0.90[EUR][1000 genomes]
rs12144586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17010720	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4433402	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4589119	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4601596	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4617402	0.96[ASN][1000 genomes]
rs4623704	0.87[EUR][1000 genomes]
rs58850477	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59510883	0.94[ASN][1000 genomes]
rs6604669	0.97[ASN][1000 genomes]
rs66522549	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6655994	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7516292	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7518806	0.91[AMR][1000 genomes];0.91[EUR][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221917400-221922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:221917400-221923000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:221917400-221926000	Weak transcription	Lung	lung
4	chr1:221917400-221931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:221919200-221924400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:221919400-221921600	ZNF genes & repeats	GM12878-XiMat	blood
7	chr1:221921000-221921400	Enhancers	Fetal Lung	lung

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