Variant report

Variant	rs73113978
Chromosome Location	chr12:64302145-64302146
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	chr12:64290561..64292085-chr12:64300945..64302466,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11175203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251126	1.00[ASN][1000 genomes]
rs2954910	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55965024	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206744	1.00[ASN][1000 genomes]
rs61933087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313480	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64283200-64303000	Weak transcription	NHLF	lung
2	chr12:64283200-64312200	Weak transcription	Left Ventricle	heart
3	chr12:64284200-64309000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:64285400-64306000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:64287200-64307800	Weak transcription	NHDF-Ad	bronchial
6	chr12:64293000-64302800	Weak transcription	Fetal Brain Male	brain
7	chr12:64295600-64308000	Weak transcription	Stomach Mucosa	stomach
8	chr12:64296400-64303200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:64296400-64304000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:64296800-64307800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:64297200-64306000	Weak transcription	Ovary	ovary
12	chr12:64297200-64307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:64297200-64309400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:64299800-64305400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:64299800-64309000	Weak transcription	Brain Anterior Caudate	brain
17	chr12:64300000-64303000	Weak transcription	NHEK	skin
18	chr12:64300000-64308400	Weak transcription	HMEC	breast
19	chr12:64300000-64309200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:64300000-64309400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:64300200-64307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:64301000-64303000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:64301000-64307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:64301800-64303000	Weak transcription	A549	lung
25	chr12:64302000-64302200	Enhancers	Fetal Brain Female	brain
26	chr12:64302000-64307800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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