Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:58018186..58020875-chr12:58113859..58115520,2	K562	blood:
2	chr12:57978631..57980822-chr12:58019393..58022185,2	MCF-7	breast:
3	chr12:58013181..58015387-chr12:58019093..58021803,2	MCF-7	breast:
4	chr12:57912625..57915071-chr12:58019101..58021817,3	K562	blood:
5	chr12:57912625..57916215-chr12:58016074..58021603,6	K562	blood:

rSNPs within LD-proxies of this variant (count:7)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58015600-58021400	Weak transcription	Gastric	stomach
2	chr12:58016000-58019600	Weak transcription	A549	lung
3	chr12:58016000-58020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:58016000-58021200	Weak transcription	Pancreas	Pancrea
5	chr12:58016200-58020000	Weak transcription	Spleen	Spleen
6	chr12:58016200-58021400	Weak transcription	Right Ventricle	heart
7	chr12:58017000-58025000	Weak transcription	K562	blood
8	chr12:58018000-58024600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:58018600-58023000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:58018800-58021600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:58018800-58024000	Strong transcription	Brain Germinal Matrix	brain
12	chr12:58018800-58024200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:58019000-58020600	Strong transcription	Aorta	Aorta
14	chr12:58019000-58023400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:58019000-58023400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:58019200-58020000	Strong transcription	Colon Smooth Muscle	Colon
17	chr12:58019200-58021600	Strong transcription	Fetal Brain Female	brain
18	chr12:58019200-58022000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr12:58019400-58019600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:58019400-58025200	Weak transcription	Hela-S3	cervix

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