Variant report

Variant	rs61313213
Chromosome Location	chr12:120453683-120453684
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	chr12:120447212..120449206-chr12:120452200..120454968,2	MCF-7	breast:
2	chr12:120451912..120458058-chr12:120461710..120466479,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57194876	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59064739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59676660	1.00[AMR][1000 genomes]
rs73408782	1.00[AMR][1000 genomes]
rs73408791	1.00[AMR][1000 genomes]
rs73408793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408794	1.00[AMR][1000 genomes]
rs73410805	1.00[AMR][1000 genomes]
rs73410815	1.00[AMR][1000 genomes]
rs73410818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410869	1.00[AMR][1000 genomes]
rs73410870	1.00[AMR][1000 genomes]
rs73410876	1.00[AMR][1000 genomes]
rs73410880	1.00[AMR][1000 genomes]
rs73410883	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120437800-120462400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:120447400-120454600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:120447600-120454200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:120447600-120454200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr12:120447800-120454200	Enhancers	Primary T cells from cord blood	blood
6	chr12:120448400-120454200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:120448400-120454200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:120448600-120454000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:120450000-120454400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:120450000-120454600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:120450400-120456000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:120451800-120454000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:120452000-120465000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:120452200-120454200	Enhancers	GM12878-XiMat	blood
15	chr12:120452200-120475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:120452400-120454400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:120453000-120457800	Weak transcription	Fetal Thymus	thymus
18	chr12:120453000-120467600	Weak transcription	Hela-S3	cervix
19	chr12:120453200-120463200	Weak transcription	Thymus	Thymus
20	chr12:120453400-120454600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:120453400-120456800	Enhancers	Primary T helper cells PMA-I stimulated	--

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