Variant report

Variant	rs73410815
Chromosome Location	chr12:120479843-120479844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120479228..120480776-chr12:120492305..120495211,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255575	Chromatin interaction

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

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

rs_ID	r²[population]
rs57194876	1.00[AMR][1000 genomes]
rs59064739	1.00[AMR][1000 genomes]
rs59676660	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61313213	1.00[AMR][1000 genomes]
rs73408782	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408791	1.00[AMR][1000 genomes]
rs73408793	1.00[AMR][1000 genomes]
rs73408794	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410805	1.00[AMR][1000 genomes]
rs73410818	1.00[AMR][1000 genomes]
rs73410825	1.00[AMR][1000 genomes]
rs73410869	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410870	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410876	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410880	0.85[AFR][1000 genomes];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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120454200-120484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:120478000-120480200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:120478200-120480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:120478200-120480200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:120478400-120480000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:120478600-120480400	Enhancers	Stomach Mucosa	stomach
7	chr12:120478800-120480000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:120478800-120480000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:120479000-120480200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:120479200-120480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:120479200-120480000	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:120479200-120480000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:120479200-120480000	Enhancers	Pancreas	Pancrea
14	chr12:120479200-120481200	Enhancers	HMEC	breast
15	chr12:120479200-120481400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:120479200-120481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:120479200-120481600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:120479400-120480000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:120479400-120480200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:120479600-120480000	Genic enhancers	Primary T cells from cord blood	blood
21	chr12:120479600-120480200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:120479600-120481600	Enhancers	HepG2	liver
23	chr12:120479800-120480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:120479800-120480200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:120479800-120480200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:120479800-120480200	Flanking Active TSS	NHEK	skin
27	chr12:120479800-120485000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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