Variant report

Variant	rs10879992
Chromosome Location	chr12:76241681-76241682
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	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10879993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180710	0.89[EUR][1000 genomes]
rs11180712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180714	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180719	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12227868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229980	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426679	0.88[EUR][1000 genomes]
rs12426691	0.88[EUR][1000 genomes]
rs1463754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493791	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493792	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1493794	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493795	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565765	0.89[EUR][1000 genomes]
rs34439598	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35080799	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
3	chr12:76236000-76242000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:76236400-76242000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:76238000-76242000	Weak transcription	Fetal Brain Male	brain
6	chr12:76239400-76242000	Weak transcription	Brain Angular Gyrus	brain
7	chr12:76239400-76242000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:76239600-76244600	Weak transcription	HepG2	liver
9	chr12:76239800-76242400	Weak transcription	Fetal Brain Female	brain
10	chr12:76240400-76242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
12	chr12:76240800-76244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:76241000-76242800	Enhancers	Fetal Lung	lung
14	chr12:76241200-76242200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:76241200-76243800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:76241200-76244000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:76241400-76243200	Enhancers	HUVEC	blood vessel
18	chr12:76241400-76243600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:76241400-76243800	Enhancers	Fetal Stomach	stomach
20	chr12:76241400-76244000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:76241600-76241800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:76241600-76242000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:76241600-76242400	Enhancers	Brain Substantia Nigra	brain
24	chr12:76241600-76242800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:76241600-76242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:76241600-76243600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:76241600-76243600	Enhancers	Ovary	ovary
28	chr12:76241600-76243800	Enhancers	Fetal Muscle Leg	muscle
29	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
30	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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