Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68277393..68280133-chr12:68286464..68288181,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11176930	0.86[ASN][1000 genomes]
rs1922656	0.89[EUR][1000 genomes]
rs2077121	0.86[EUR][1000 genomes]
rs2192783	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192784	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2930116	0.91[ASN][1000 genomes]
rs3014996	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015000	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3850591	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs734542	0.89[EUR][1000 genomes]
rs741290	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1905454	HMGA2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68282800-68286800	Weak transcription	Psoas Muscle	Psoas
2	chr12:68283000-68288000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:68284400-68287600	Enhancers	Fetal Brain Male	brain
4	chr12:68284600-68286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:68284600-68287400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:68284600-68287800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:68284800-68287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:68284800-68288400	Enhancers	HSMMtube	muscle
9	chr12:68285200-68287200	Enhancers	Fetal Heart	heart
10	chr12:68285200-68287400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:68285600-68287800	Enhancers	HSMM	muscle
12	chr12:68285800-68287000	Enhancers	Fetal Brain Female	brain
13	chr12:68286000-68286800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:68286000-68287000	Weak transcription	Left Ventricle	heart
15	chr12:68286000-68287200	Weak transcription	Fetal Intestine Small	intestine
16	chr12:68286200-68286600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:68286200-68287000	Weak transcription	Aorta	Aorta
18	chr12:68286200-68287200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:68286200-68287200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:68286200-68287200	Enhancers	Osteobl	bone
21	chr12:68286400-68287200	Enhancers	Muscle Satellite Cultured Cells	--

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