Variant report

Variant	rs73218210
Chromosome Location	chr12:121555107-121555108
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121548947..121551862-chr12:121555011..121556681,2	MCF-7	breast:
2	chr12:121552705..121555604-chr12:121668224..121669822,2	MCF-7	breast:
3	chr12:121554481..121556246-chr12:121646405..121649275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10492051	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1180008	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17433716	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17434682	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17434731	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17434809	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17512249	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17525767	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1796415	0.91[EUR][1000 genomes]
rs208291	0.86[EUR][1000 genomes]
rs28360439	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28969463	0.92[EUR][1000 genomes]
rs3850517	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4083358	0.90[EUR][1000 genomes]
rs41416850	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4445718	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55728984	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55814439	0.85[EUR][1000 genomes]
rs55817936	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55846109	0.87[EUR][1000 genomes]
rs55847639	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56017922	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs560422	0.87[EUR][1000 genomes]
rs56156773	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56159890	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312738	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73214189	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73214193	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73214200	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73214202	0.89[EUR][1000 genomes]
rs73216105	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73216108	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73216109	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216110	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73216131	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218207	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73218221	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7959194	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7973360	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr12:121552400-121560800	Weak transcription	K562	blood
2	chr12:121552600-121557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:121554200-121555800	Enhancers	HepG2	liver
4	chr12:121554400-121555400	Enhancers	Gastric	stomach
5	chr12:121554400-121555600	Enhancers	Pancreas	Pancrea
6	chr12:121554600-121555400	Flanking Active TSS	Liver	Liver
7	chr12:121554800-121555200	Enhancers	Stomach Mucosa	stomach

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