Variant report

Variant	rs12305245
Chromosome Location	chr12:106315405-106315406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106254674..106256372-chr12:106314375..106316199,2	MCF-7	breast:
2	chr12:106315341..106317529-chr12:106329436..106331442,2	MCF-7	breast:
3	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:
4	chr12:106313628..106315997-chr12:106317077..106319893,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1078862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1078863	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112797	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112798	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112801	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834899	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11836913	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306965	1.00[EUR][1000 genomes]
rs12311106	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313233	1.00[EUR][1000 genomes]
rs12315236	1.00[EUR][1000 genomes]
rs12315345	1.00[MEX][hapmap]
rs12317813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320402	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35281026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs753924	1.00[MEX][hapmap]
rs7960898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962795	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962923	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980654	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs880439	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106311000-106315800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:106312600-106317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:106313200-106316400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:106313400-106316600	Enhancers	Fetal Heart	heart
5	chr12:106313400-106317200	Enhancers	NHEK	skin
6	chr12:106313600-106317200	Enhancers	Fetal Muscle Leg	muscle
7	chr12:106313800-106315600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:106314000-106315800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:106314200-106315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:106314400-106315800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:106314400-106315800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:106314400-106315800	Weak transcription	Lung	lung
13	chr12:106314400-106315800	Weak transcription	Right Ventricle	heart
14	chr12:106314600-106315600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:106314600-106315800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:106314600-106315800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:106314600-106315800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:106314600-106315800	Weak transcription	Psoas Muscle	Psoas
19	chr12:106314600-106315800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:106314600-106315800	Weak transcription	HSMM	muscle
21	chr12:106314600-106316200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:106314600-106316800	Weak transcription	Left Ventricle	heart
23	chr12:106314600-106324200	Weak transcription	Right Atrium	heart
24	chr12:106314800-106315600	Genic enhancers	HSMMtube	muscle
25	chr12:106314800-106315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:106315200-106315600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:106315200-106315600	Weak transcription	HMEC	breast
28	chr12:106315200-106316000	Enhancers	Brain Angular Gyrus	brain
29	chr12:106315400-106316000	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:106315400-106316200	Enhancers	Brain Germinal Matrix	brain
31	chr12:106315400-106316200	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:106315400-106316400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:106315400-106316800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:106315400-106317000	Enhancers	Brain Anterior Caudate	brain

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