Variant report

Variant	rs74086403
Chromosome Location	chr12:40022705-40022706
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	chr12:40011374..40014177-chr12:40021729..40023684,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173208	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs4573758	1.00[AMR][1000 genomes]
rs4631951	1.00[AMR][1000 genomes]
rs57597535	1.00[AMR][1000 genomes]
rs60191587	1.00[AMR][1000 genomes]
rs61188330	1.00[AMR][1000 genomes]
rs61328583	1.00[AMR][1000 genomes]
rs61448501	1.00[AMR][1000 genomes]
rs73268364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268367	1.00[AMR][1000 genomes]
rs73270411	1.00[AMR][1000 genomes]
rs73270422	1.00[AMR][1000 genomes]
rs73270464	1.00[AMR][1000 genomes]
rs74086422	1.00[AMR][1000 genomes]
rs74086425	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090316	1.00[AMR][1000 genomes]
rs74090323	1.00[AMR][1000 genomes]
rs74090331	1.00[AMR][1000 genomes]
rs74090336	1.00[AMR][1000 genomes]
rs74090342	1.00[AMR][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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	2 gene(s)	inside rSNPs	diseases
12	nsv899020	chr12:39985206-40040331	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv899021	chr12:39989172-40053423	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv899022	chr12:40014427-40111761	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40019600-40024800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:40020000-40024600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:40020200-40022800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:40020200-40024400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:40020400-40024400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:40020600-40022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:40021200-40024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:40021400-40023000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:40021600-40022800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:40021600-40022800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr12:40021600-40022800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:40021600-40023600	Enhancers	Dnd41	blood
13	chr12:40022000-40036800	Weak transcription	K562	blood
14	chr12:40022600-40022800	Enhancers	Fetal Thymus	thymus
15	chr12:40022600-40023000	Enhancers	Primary B cells from cord blood	blood
16	chr12:40022600-40023000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:40022600-40023200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr12:40022600-40023200	Flanking Active TSS	GM12878-XiMat	blood
19	chr12:40022600-40023600	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:40022600-40023800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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