Variant report

Variant	rs34427484
Chromosome Location	chr12:106314603-106314604
allele	A/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	chr12:106305287..106307682-chr12:106312157..106314624,3	MCF-7	breast:
3	chr12:106313628..106315997-chr12:106317077..106319893,2	K562	blood:
4	chr12:106312750..106314775-chr12:106316398..106318391,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073830	0.81[ASN][1000 genomes]
rs12313607	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12827357	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12832870	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1345546	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1816038	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1819965	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34139704	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34642982	0.81[AMR][1000 genomes]
rs35570216	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35656021	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35669307	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61940130	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7956811	0.93[ASN][1000 genomes]
rs7964214	0.85[EUR][1000 genomes];0.89[ASN][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	chr12:106313000-106314800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:106313200-106316400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:106313400-106315200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:106313400-106315200	Enhancers	HMEC	breast
7	chr12:106313400-106316600	Enhancers	Fetal Heart	heart
8	chr12:106313400-106317200	Enhancers	NHEK	skin
9	chr12:106313600-106315000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:106313600-106317200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:106313800-106315000	Enhancers	Brain Anterior Caudate	brain
12	chr12:106313800-106315000	Enhancers	Brain Germinal Matrix	brain
13	chr12:106313800-106315400	Enhancers	Brain Hippocampus Middle	brain
14	chr12:106313800-106315600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:106314000-106314800	Enhancers	HSMMtube	muscle
16	chr12:106314000-106315800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:106314200-106315400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:106314200-106315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:106314400-106315200	Weak transcription	Brain Angular Gyrus	brain
20	chr12:106314400-106315400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:106314400-106315800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:106314400-106315800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:106314400-106315800	Weak transcription	Lung	lung
24	chr12:106314400-106315800	Weak transcription	Right Ventricle	heart
25	chr12:106314600-106315600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:106314600-106315800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:106314600-106315800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:106314600-106315800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:106314600-106315800	Weak transcription	Psoas Muscle	Psoas
30	chr12:106314600-106315800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:106314600-106315800	Weak transcription	HSMM	muscle
32	chr12:106314600-106316200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:106314600-106316800	Weak transcription	Left Ventricle	heart
34	chr12:106314600-106324200	Weak transcription	Right Atrium	heart

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